Variant report

Variant	nsv873259
Chromosome Location	chr1:228334277-228359775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1618)
CpG islands
(count:2261)
Chromatin interactive
region (count:84)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1618 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228352315-228352509	K562	blood:	n/a	n/a
2	ARID3A	chr1:228351742-228351746	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:228353388-228353805	K562	blood:	n/a	n/a
4	ARID3A	chr1:228353146-228353862	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:228354116-228354615	HepG2	liver:	n/a	n/a
6	ATF1	chr1:228353045-228354515	K562	blood:	n/a	chr1:228353837-228353851
7	ATF1	chr1:228356426-228356529	K562	blood:	n/a	n/a
8	ATF1	chr1:228352243-228352597	K562	blood:	n/a	n/a
9	ATF2	chr1:228353187-228354388	H1-hESC	embryonic stem cell:	n/a	chr1:228353837-228353851
10	ATF2	chr1:228353623-228354065	GM12878	blood:	n/a	chr1:228353837-228353851
11	ATF2	chr1:228353215-228354115	GM12878	blood:	n/a	chr1:228353837-228353851
12	ATF2	chr1:228353250-228353990	H1-hESC	embryonic stem cell:	n/a	chr1:228353837-228353851
13	ATF3	chr1:228353294-228354052	K562	blood:	n/a	chr1:228353884-228353893
14	ATF3	chr1:228356325-228356577	K562	blood:	n/a	chr1:228356450-228356465 chr1:228356451-228356464 chr1:228356454-228356465 chr1:228356452-228356463 chr1:228356453-228356461 chr1:228356454-228356464 chr1:228356451-228356462 chr1:228356453-228356464 chr1:228356454-228356462 chr1:228356452-228356463 chr1:228356454-228356461 chr1:228356450-228356461 chr1:228356451-228356464
15	ATF3	chr1:228356256-228356593	K562	blood:	n/a	chr1:228356450-228356465 chr1:228356451-228356464 chr1:228356454-228356465 chr1:228356452-228356463 chr1:228356453-228356461 chr1:228356454-228356464 chr1:228356451-228356462 chr1:228356453-228356464 chr1:228356454-228356462 chr1:228356452-228356463 chr1:228356454-228356461 chr1:228356450-228356461 chr1:228356451-228356464
16	ATF3	chr1:228353254-228353956	K562	blood:	n/a	chr1:228353884-228353893
17	ATF3	chr1:228353292-228353810	A549	lung:	n/a	n/a
18	BACH1	chr1:228352212-228352427	K562	blood:	n/a	n/a
19	BACH1	chr1:228352968-228354682	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:228354335-228354356	K562	blood:	n/a	n/a
21	BCL3	chr1:228352786-228353666	A549	lung:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366 chr1:228353242-228353251
22	BCL3	chr1:228353218-228353970	GM12878	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366 chr1:228353242-228353251
23	BCLAF1	chr1:228353281-228353917	K562	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366
24	BCLAF1	chr1:228353268-228353859	GM12878	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366
25	BCLAF1	chr1:228353207-228353829	GM12878	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366 chr1:228353242-228353251
26	BHLHE40	chr1:228352168-228352732	K562	blood:	n/a	n/a
27	BHLHE40	chr1:228352936-228354521	HepG2	liver:	n/a	chr1:228353441-228353457 chr1:228354095-228354111
28	BHLHE40	chr1:228352934-228354605	K562	blood:	n/a	chr1:228353441-228353457 chr1:228354095-228354111
29	BHLHE40	chr1:228352941-228354631	GM12878	blood:	n/a	chr1:228353441-228353457 chr1:228354095-228354111
30	BHLHE40	chr1:228353180-228354018	A549	lung:	n/a	chr1:228353441-228353457
31	BHLHE40	chr1:228353592-228353956	HepG2	liver:	n/a	n/a
32	BHLHE40	chr1:228343974-228344190	K562	blood:	n/a	n/a
33	BRCA1	chr1:228354309-228354417	HepG2	liver:	n/a	n/a
34	BRCA1	chr1:228353428-228353907	GM12878	blood:	n/a	n/a
35	BRCA1	chr1:228353332-228353893	HepG2	liver:	n/a	n/a
36	BRCA1	chr1:228352906-228352936	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr1:228353328-228353841	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr1:228350336-228350991	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr1:228353136-228354488	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr1:228352867-228354648	K562	blood:	n/a	n/a
41	CBX3	chr1:228353216-228353605	K562	blood:	n/a	n/a
42	CBX3	chr1:228336946-228337585	K562	blood:	n/a	n/a
43	CBX3	chr1:228352153-228352846	K562	blood:	n/a	n/a
44	CCNT2	chr1:228353064-228354497	K562	blood:	n/a	n/a
45	CCNT2	chr1:228352180-228352698	K562	blood:	n/a	n/a
46	CEBPB	chr1:228352222-228352658	K562	blood:	n/a	n/a
47	CEBPB	chr1:228353705-228353955	HepG2	liver:	n/a	n/a
48	CEBPB	chr1:228353094-228354515	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr1:228357566-228357645	K562	blood:	n/a	n/a
50	CEBPB	chr1:228350593-228351021	Hela-S3	cervix:	n/a	n/a

(count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228352412-228352462	PrEC	prostate:	n/a
2	chr1:228352940-228352990	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:228352449-228352499	Caco-2	colon:	n/a
4	chr1:228345324-228345374	AG10803	skin:	n/a
5	chr1:228352412-228352462	PrEC	prostate:	n/a
6	chr1:228352940-228352990	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:228352449-228352499	Caco-2	colon:	n/a
8	chr1:228345324-228345374	AG10803	skin:	n/a
9	chr1:228357861-228357911	HUVEC	blood vessel:	n/a
10	chr1:228352449-228352499	GM12878	blood:	n/a
11	chr1:228345490-228345540	HRCEpiC	kidney:	n/a
12	chr1:228353712-228353762	GM12891	blood:	n/a
13	chr1:228353591-228353641	PFSK-1	brain:	n/a
14	chr1:228337311-228337361	HIPEpiC	eye:	n/a
15	chr1:228350860-228350910	GM12892	blood:	n/a
16	chr1:228345490-228345540	GM12892	blood:	n/a
17	chr1:228353879-228353929	Hela-S3	cervix:	n/a
18	chr1:228353591-228353641	AG09309	skin:	n/a
19	chr1:228346338-228346388	U87	brain:	n/a
20	chr1:228337503-228337553	GM06990	blood:	n/a
21	chr1:228352449-228352499	HCPEpiC	choroid plexus:	n/a
22	chr1:228337366-228337416	PANC-1	pancreas:	n/a
23	chr1:228341886-228341936	GM06990	blood:	n/a
24	chr1:228337379-228337429	GM06990	blood:	n/a
25	chr1:228353591-228353641	Hepatocyte	liver:	n/a
26	chr1:228337311-228337361	AG09309	skin:	n/a
27	chr1:228357861-228357911	GM06990	blood:	n/a
28	chr1:228353327-228353377	ovcar-3	ovarian:	n/a
29	chr1:228337366-228337416	SK-N-SH_RA	brain:	n/a
30	chr1:228336474-228336524	MCF-7	breast:	n/a
31	chr1:228352449-228352499	HAEpiC	amniotic membrane:	n/a
32	chr1:228345378-228345428	LNCaP	prostate:	n/a
33	chr1:228357861-228357911	HNPCEpiC	eye:	n/a
34	chr1:228352449-228352499	AoSMC	blood vessel:	n/a
35	chr1:228337311-228337361	NB4	blood:	n/a
36	chr1:228346347-228346397	T-47D	breast:	n/a
37	chr1:228337626-228337676	NB4	blood:	n/a
38	chr1:228353215-228353265	HUVEC	blood vessel:	n/a
39	chr1:228346347-228346397	GM12878	blood:	n/a
40	chr1:228337626-228337676	HMEC	breast:	n/a
41	chr1:228346338-228346388	Hela-S3	cervix:	n/a
42	chr1:228341886-228341936	Hela-S3	cervix:	n/a
43	chr1:228352449-228352499	HL-60	blood:	n/a
44	chr1:228352412-228352462	AoSMC	blood vessel:	n/a
45	chr1:228336474-228336524	Jurkat	blood:	n/a
46	chr1:228353327-228353377	SK-N-SH	brain:	n/a
47	chr1:228353879-228353929	HEEpiC	esophagus:	n/a
48	chr1:228353246-228353296	GM12892	blood:	n/a
49	chr1:228337181-228337231	HL-60	blood:	n/a
50	chr1:228337379-228337429	ECC-1	luminal epithelium:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:28974734..28975677-chr1:228353270..228354083,2	Hela-S3	cervix:
2	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
3	chr1:16839413..16842020-chr1:228351900..228354704,2	K562	blood:
4	chr1:29562885..29563460-chr1:228352933..228353897,2	Hela-S3	cervix:
5	chr1:228291284..228293085-chr1:228340318..228343029,2	K562	blood:
6	chr1:228353217..228353781-chr7:23144838..23145776,2	Hela-S3	cervix:
7	chr1:228353437..228354021-chr22:31480632..31481495,2	HCT-116	colon:
8	chr1:228289288..228292230-chr1:228352223..228354730,2	MCF-7	breast:
9	chr1:228320957..228324264-chr1:228357884..228361663,3	MCF-7	breast:
10	chr1:228353274..228353795-chr17:19281030..19281980,2	Hela-S3	cervix:
11	chr1:228288459..228290327-chr1:228338206..228340411,2	K562	blood:
12	chr1:228350980..228355955-chr1:228356979..228359321,5	MCF-7	breast:
13	chr1:228353787..228355336-chr1:228557501..228560322,2	K562	blood:
14	chr1:228295623..228298108-chr1:228335544..228338438,2	MCF-7	breast:
15	chr1:228349528..228352253-chr1:228378425..228381248,2	MCF-7	breast:
16	chr1:228353154..228354800-chr1:229692918..229695229,2	K562	blood:
17	chr1:228327311..228328278-chr1:228353352..228353936,3	K562	blood:
18	chr1:145382413..145383397-chr1:228352577..228353573,2	Hela-S3	cervix:
19	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
20	chr1:228357413..228360288-chr1:228642904..228645646,2	K562	blood:
21	chr1:228356236..228360236-chr1:228642827..228646319,4	K562	blood:
22	chr1:228327198..228328051-chr1:228353308..228354013,3	MCF-7	breast:
23	chr1:228351767..228353945-chr1:228395258..228397219,2	MCF-7	breast:
24	chr1:228280178..228282214-chr1:228355468..228357999,2	K562	blood:
25	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:
26	chr1:228353428..228355083-chr1:228698397..228701080,2	K562	blood:
27	chr1:228353118..228354912-chr1:228591904..228594294,2	MCF-7	breast:
28	chr1:228270474..228272694-chr1:228336357..228338344,2	K562	blood:
29	chr1:228353681..228354232-chr11:47207029..47207787,2	Hela-S3	cervix:
30	chr1:228289454..228291459-chr1:228353037..228354863,4	MCF-7	breast:
31	chr1:228267816..228271023-chr1:228334433..228337364,3	K562	blood:
32	chr1:228354901..228357377-chr1:228623648..228625524,2	K562	blood:
33	chr1:228269773..228272364-chr1:228352112..228354622,6	MCF-7	breast:
34	chr1:228351867..228354707-chr1:228644066..228646838,3	K562	blood:
35	chr1:228353257..228354307-chr20:30194419..30195731,3	Hela-S3	cervix:
36	chr1:228353308..228353903-chr6:42714301..42715058,2	Hela-S3	cervix:
37	chr1:228350672..228351362-chr5:126113052..126113921,2	Hela-S3	cervix:
38	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
39	chr1:149858478..149860585-chr1:228353320..228355581,2	MCF-7	breast:
40	chr1:228353096..228354983-chr1:228611648..228613946,2	MCF-7	breast:
41	chr1:228353049..228354978-chr1:228355027..228356903,2	MCF-7	breast:
42	chr1:228314188..228315980-chr1:228346492..228348438,2	K562	blood:
43	chr1:228353847..228354456-chr11:65189870..65190813,2	Hela-S3	cervix:
44	chr1:228295286..228298610-chr1:228351640..228355026,4	K562	blood:
45	chr1:228268894..228271778-chr1:228351302..228354925,4	MCF-7	breast:
46	chr1:228353540..228354113-chr22:42229086..42229679,2	HCT-116	colon:
47	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
48	chr1:228295479..228298124-chr1:228352385..228354527,2	MCF-7	breast:
49	chr1:228352349..228353216-chr4:129731096..129731690,2	Hela-S3	cervix:
50	chr1:228352180..228354320-chr1:228400730..228402843,3	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf148-1	chr1:228353175-228353213	NR_103540
2	lnc-GJC2-1	chr1:228348810-228349358	NONHSAT009993
3	lnc-C1orf148-1	chr1:228352355-228352549	NONHSAT009994
4	lnc-C1orf148-1	chr1:228351787-228352193	NR_103540
5	lnc-C1orf148-1	chr1:228351787-228352193	NONHSAT009994

No data

Variant related genes	Relation type
IBA57	TF binding region
GJC2	TF binding region
GUK1	TF binding region
IBA57-AS1	TF binding region
IBA57	CpG island
GJC2	CpG island
GUK1	CpG island
IBA57-AS1	CpG island
ENSG00000154370	chromatin interactions
ENSG00000143774	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000198911	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000183963	chromatin interactions
ENSG00000227625	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000166130	chromatin interactions
ENSG00000073111	chromatin interactions
ENSG00000060656	chromatin interactions
ENSG00000141682	chromatin interactions
ENSG00000141570	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000113368	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000168148	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000264944	chromatin interactions
ENSG00000215811	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000269890	chromatin interactions
ENSG00000019485	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000214078	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000244462	chromatin interactions
ENSG00000120868	chromatin interactions
ENSG00000118197	chromatin interactions
ENSG00000135776	chromatin interactions
ENSG00000166484	chromatin interactions
ENSG00000269934	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000108641	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000109971	chromatin interactions
ENSG00000163870	chromatin interactions

Extended variants
information (count: 1004 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10916268	chr1:228334277-228334278	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534692386	chr1:228334294-228334295	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs555845206	chr1:228334316-228334317	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs568212076	chr1:228334324-228334325	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs536867934	chr1:228334383-228334384	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs147085266	chr1:228334388-228334389	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs575896625	chr1:228334391-228334392	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs544551248	chr1:228334412-228334413	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs3216021	chr1:228334419-228334420	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs55873533	chr1:228334436-228334437	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs371997337	chr1:228334484-228334485	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs375563720	chr1:228334514-228334515	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs1804704	chr1:228334550-228334551	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs141834883	chr1:228334589-228334590	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs139091986	chr1:228334590-228334591	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs74140999	chr1:228334592-228334593	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200461920	chr1:228334601-228334602	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs540403059	chr1:228334602-228334603	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs368698841	chr1:228334618-228334619	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs562065836	chr1:228334628-228334629	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs575750582	chr1:228334636-228334637	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs189262231	chr1:228334637-228334638	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs367606769	chr1:228334650-228334651	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs377531998	chr1:228334655-228334656	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs370418610	chr1:228334666-228334667	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs373865245	chr1:228334670-228334671	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs368005156	chr1:228334684-228334685	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs564711457	chr1:228334713-228334714	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs533664554	chr1:228334719-228334720	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs547343926	chr1:228334771-228334772	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs559284676	chr1:228334785-228334786	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs77036964	chr1:228334801-228334802	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs77958547	chr1:228334802-228334803	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs530502419	chr1:228334817-228334818	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs561241787	chr1:228334821-228334822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs368720929	chr1:228334828-228334829	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs149265168	chr1:228334841-228334842	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs192123048	chr1:228334842-228334843	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs184813778	chr1:228334862-228334863	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs550349979	chr1:228334909-228334910	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs570357420	chr1:228334934-228334935	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs201239171	chr1:228334970-228334971	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs553009429	chr1:228335035-228335036	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs371774092	chr1:228335081-228335082	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs202086030	chr1:228335091-228335092	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs375124006	chr1:228335099-228335100	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs373707927	chr1:228335107-228335108	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs144608344	chr1:228335116-228335117	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs368432831	chr1:228335124-228335125	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs1803695	chr1:228335125-228335126	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1626 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228329000-228336800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:228329000-228339400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:228329000-228339600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:228329200-228337400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:228329400-228336600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:228329400-228337600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:228329400-228337600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:228329400-228338200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:228329600-228335200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:228329600-228335600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:228329600-228336800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:228329800-228336400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:228329800-228336600	Weak transcription	A549	lung
14	chr1:228330000-228334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:228330000-228335800	Weak transcription	Fetal Lung	lung
16	chr1:228330000-228337200	Genic enhancers	Fetal Muscle Leg	muscle
17	chr1:228330000-228337800	Genic enhancers	Lung	lung
18	chr1:228330200-228336200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:228330600-228337200	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr1:228331000-228335600	Weak transcription	HUVEC	blood vessel
21	chr1:228331000-228335800	Strong transcription	Fetal Stomach	stomach
22	chr1:228331000-228338800	Weak transcription	HSMMtube	muscle
23	chr1:228331200-228336000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:228331400-228341800	Weak transcription	Psoas Muscle	Psoas
25	chr1:228331600-228337000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:228331600-228337000	Weak transcription	NH-A	brain
27	chr1:228331600-228341000	Genic enhancers	Fetal Thymus	thymus
28	chr1:228331800-228335800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:228331800-228336400	Weak transcription	NHDF-Ad	bronchial
30	chr1:228331800-228336600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:228331800-228336800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:228332000-228334600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:228332000-228335800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:228332000-228336200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:228332000-228336400	Weak transcription	Hela-S3	cervix
36	chr1:228332000-228336400	Weak transcription	HSMM	muscle
37	chr1:228332000-228336600	Weak transcription	Fetal Heart	heart
38	chr1:228332000-228337000	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr1:228332200-228334400	Weak transcription	HMEC	breast
40	chr1:228332200-228334800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:228332200-228334800	Weak transcription	Brain Angular Gyrus	brain
42	chr1:228332200-228335600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:228332200-228335800	Weak transcription	Right Atrium	heart
44	chr1:228332200-228336000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:228332200-228336200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:228332200-228337400	Strong transcription	Dnd41	blood
47	chr1:228332400-228336400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:228332400-228337200	Genic enhancers	Esophagus	oesophagus
49	chr1:228332400-228339400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:228332600-228335800	Weak transcription	Stomach Mucosa	stomach

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