Variant report

Variant	nsv873261
Chromosome Location	chr1:228338939-228359775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1417)
CpG islands
(count:1649)
Chromatin interactive
region (count:78)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228353146-228353862	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:228352315-228352509	K562	blood:	n/a	n/a
3	ARID3A	chr1:228354116-228354615	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:228353388-228353805	K562	blood:	n/a	n/a
5	ARID3A	chr1:228351742-228351746	HepG2	liver:	n/a	n/a
6	ATF1	chr1:228352243-228352597	K562	blood:	n/a	n/a
7	ATF1	chr1:228356426-228356529	K562	blood:	n/a	n/a
8	ATF1	chr1:228353045-228354515	K562	blood:	n/a	chr1:228353837-228353851
9	ATF2	chr1:228353187-228354388	H1-hESC	embryonic stem cell:	n/a	chr1:228353837-228353851
10	ATF2	chr1:228353215-228354115	GM12878	blood:	n/a	chr1:228353837-228353851
11	ATF2	chr1:228353623-228354065	GM12878	blood:	n/a	chr1:228353837-228353851
12	ATF2	chr1:228353250-228353990	H1-hESC	embryonic stem cell:	n/a	chr1:228353837-228353851
13	ATF3	chr1:228353254-228353956	K562	blood:	n/a	chr1:228353884-228353893
14	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
15	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
16	ATF3	chr1:228353294-228354052	K562	blood:	n/a	chr1:228353884-228353893
17	ATF3	chr1:228353292-228353810	A549	lung:	n/a	n/a
18	BACH1	chr1:228354335-228354356	K562	blood:	n/a	n/a
19	BACH1	chr1:228352212-228352427	K562	blood:	n/a	n/a
20	BACH1	chr1:228352968-228354682	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL3	chr1:228353218-228353970	GM12878	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366 chr1:228353242-228353251
22	BCL3	chr1:228352786-228353666	A549	lung:	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	chr1:228353207-228353829	GM12878	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366 chr1:228353242-228353251
25	BCLAF1	chr1:228353268-228353859	GM12878	blood:	n/a	chr1:228353489-228353502 chr1:228353360-228353369 chr1:228353353-228353366
26	BHLHE40	chr1:228352936-228354521	HepG2	liver:	n/a	chr1:228353441-228353457 chr1:228354095-228354111
27	BHLHE40	chr1:228353592-228353956	HepG2	liver:	n/a	n/a
28	BHLHE40	chr1:228352941-228354631	GM12878	blood:	n/a	chr1:228353441-228353457 chr1:228354095-228354111
29	BHLHE40	chr1:228352168-228352732	K562	blood:	n/a	n/a
30	BHLHE40	chr1:228343974-228344190	K562	blood:	n/a	n/a
31	BHLHE40	chr1:228352934-228354605	K562	blood:	n/a	chr1:228353441-228353457 chr1:228354095-228354111
32	BHLHE40	chr1:228353180-228354018	A549	lung:	n/a	chr1:228353441-228353457
33	BRCA1	chr1:228354309-228354417	HepG2	liver:	n/a	n/a
34	BRCA1	chr1:228353428-228353907	GM12878	blood:	n/a	n/a
35	BRCA1	chr1:228353136-228354488	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr1:228350336-228350991	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr1:228352906-228352936	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr1:228353332-228353893	HepG2	liver:	n/a	n/a
39	BRCA1	chr1:228353328-228353841	H1-hESC	embryonic stem cell:	n/a	n/a
40	CBX3	chr1:228352153-228352846	K562	blood:	n/a	n/a
41	CBX3	chr1:228352867-228354648	K562	blood:	n/a	n/a
42	CBX3	chr1:228353216-228353605	K562	blood:	n/a	n/a
43	CCNT2	chr1:228352180-228352698	K562	blood:	n/a	n/a
44	CCNT2	chr1:228353064-228354497	K562	blood:	n/a	n/a
45	CEBPB	chr1:228349274-228349353	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr1:228352355-228352688	K562	blood:	n/a	n/a
47	CEBPB	chr1:228353694-228353978	IMR90	lung:	n/a	n/a
48	CEBPB	chr1:228356420-228356548	K562	blood:	n/a	n/a
49	CEBPB	chr1:228352222-228352658	K562	blood:	n/a	n/a
50	CEBPB	chr1:228353317-228353781	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228353246-228353296	SK-N-SH	brain:	n/a
2	chr1:228346181-228346231	GM06990	blood:	n/a
3	chr1:228353246-228353296	SK-N-SH	brain:	n/a
4	chr1:228346181-228346231	GM06990	blood:	n/a
5	chr1:228345490-228345540	HCT-116	colon:	n/a
6	chr1:228353879-228353929	Jurkat	blood:	n/a
7	chr1:228353294-228353344	HAEpiC	amniotic membrane:	n/a
8	chr1:228353246-228353296	AG09319	gingival:	n/a
9	chr1:228353591-228353641	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:228353294-228353344	SAEC	small airway:	n/a
11	chr1:228346347-228346397	PFSK-1	brain:	n/a
12	chr1:228350860-228350910	HRCEpiC	kidney:	n/a
13	chr1:228345490-228345540	Hela-S3	cervix:	n/a
14	chr1:228346347-228346397	MCF-7	breast:	n/a
15	chr1:228345324-228345374	MCF10A-Er-Src	breast:	n/a
16	chr1:228353246-228353296	PANC-1	pancreas:	n/a
17	chr1:228350199-228350249	CMK	blood:	n/a
18	chr1:228345378-228345428	NT2-D1	testis:	n/a
19	chr1:228346014-228346064	SK-N-SH	brain:	n/a
20	chr1:228359130-228359180	NHDF-neo	bronchial:	n/a
21	chr1:228345378-228345428	SK-N-MC	brain:	n/a
22	chr1:228353591-228353641	HAEpiC	amniotic membrane:	n/a
23	chr1:228345324-228345374	SK-N-SH_RA	brain:	n/a
24	chr1:228352412-228352462	NH-A	brain:	n/a
25	chr1:228345378-228345428	GM12892	blood:	n/a
26	chr1:228346338-228346388	HCF	heart:	n/a
27	chr1:228351588-228351638	HCM	heart:	n/a
28	chr1:228353712-228353762	H1-hESC	embryonic stem cell:	embryo
29	chr1:228353883-228353933	SKMC	muscle:	n/a
30	chr1:228353712-228353762	NHBE	bronchial:	n/a
31	chr1:228353246-228353296	Jurkat	blood:	n/a
32	chr1:228345324-228345374	AoSMC	blood vessel:	n/a
33	chr1:228347181-228347231	GM19239	blood:	n/a
34	chr1:228345324-228345374	HEEpiC	esophagus:	n/a
35	chr1:228350199-228350249	PFSK-1	brain:	n/a
36	chr1:228357861-228357911	HCF	heart:	n/a
37	chr1:228345324-228345374	GM06990	blood:	n/a
38	chr1:228353364-228353414	SK-N-SH	brain:	n/a
39	chr1:228353294-228353344	PrEC	prostate:	n/a
40	chr1:228346338-228346388	U87	brain:	n/a
41	chr1:228350860-228350910	GM12878	blood:	n/a
42	chr1:228359130-228359180	ProgFib	skin:	n/a
43	chr1:228345378-228345428	ProgFib	skin:	n/a
44	chr1:228353879-228353929	ovcar-3	ovarian:	n/a
45	chr1:228353364-228353414	NHBE	bronchial:	n/a
46	chr1:228351588-228351638	HIPEpiC	eye:	n/a
47	chr1:228350199-228350249	NB4	blood:	n/a
48	chr1:228353364-228353414	HepG2	liver:	n/a
49	chr1:228357861-228357911	PrEC	prostate:	n/a
50	chr1:228352449-228352499	HEK293	kidney:	embryo

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:228352747..228353404-chr11:45167742..45168503,2	Hela-S3	cervix:
2	chr1:228353272..228353916-chr18:57566926..57567747,2	Hela-S3	cervix:
3	chr1:228282033..228284613-chr1:228342310..228344410,2	MCF-7	breast:
4	chr1:228289454..228291459-chr1:228353037..228354863,4	MCF-7	breast:
5	chr1:228353847..228354456-chr11:65189870..65190813,2	Hela-S3	cervix:
6	chr1:228353787..228355336-chr1:228557501..228560322,2	K562	blood:
7	chr1:228353150..228353677-chr20:34252105..34252892,2	Hela-S3	cervix:
8	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
9	chr1:228327198..228328051-chr1:228353308..228354013,3	MCF-7	breast:
10	chr1:228353096..228354983-chr1:228611648..228613946,2	MCF-7	breast:
11	chr1:200638640..200639522-chr1:228352716..228353247,2	Hela-S3	cervix:
12	chr1:228353403..228354036-chr12:52445172..52445723,2	Hela-S3	cervix:
13	chr1:228268335..228271224-chr1:228352172..228356089,4	K562	blood:
14	chr1:228353494..228355911-chr1:228462112..228465805,3	K562	blood:
15	chr1:228350980..228355955-chr1:228356979..228359321,5	MCF-7	breast:
16	chr1:16839413..16842020-chr1:228351900..228354704,2	K562	blood:
17	chr1:228353257..228354307-chr20:30194419..30195731,3	Hela-S3	cervix:
18	chr1:28974734..28975677-chr1:228353270..228354083,2	Hela-S3	cervix:
19	chr1:228289288..228292230-chr1:228352223..228354730,2	MCF-7	breast:
20	chr1:145382413..145383397-chr1:228352577..228353573,2	Hela-S3	cervix:
21	chr1:228275698..228278149-chr1:228340202..228341746,2	MCF-7	breast:
22	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
23	chr1:228353437..228354021-chr22:31480632..31481495,2	HCT-116	colon:
24	chr1:228351767..228353945-chr1:228395258..228397219,2	MCF-7	breast:
25	chr1:228354901..228357377-chr1:228623648..228625524,2	K562	blood:
26	chr1:228357413..228360288-chr1:228642904..228645646,2	K562	blood:
27	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
28	chr1:228295479..228298124-chr1:228352385..228354527,2	MCF-7	breast:
29	chr1:228359558..228361063-chr1:228363819..228365618,2	MCF-7	breast:
30	chr1:228268894..228271778-chr1:228351302..228354925,4	MCF-7	breast:
31	chr1:228350672..228351362-chr5:126113052..126113921,2	Hela-S3	cervix:
32	chr1:228353681..228354232-chr11:47207029..47207787,2	Hela-S3	cervix:
33	chr1:228350980..228355955-chr1:228356979..228359321,5	MCF-7	breast:
34	chr1:228288054..228293498-chr1:228351743..228355627,9	K562	blood:
35	chr1:228353217..228353781-chr7:23144838..23145776,2	Hela-S3	cervix:
36	chr1:228349528..228352253-chr1:228378425..228381248,2	MCF-7	breast:
37	chr1:228320957..228324264-chr1:228357884..228361663,3	MCF-7	breast:
38	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
39	chr1:228353154..228354800-chr1:229692918..229695229,2	K562	blood:
40	chr1:228327311..228328278-chr1:228353352..228353936,3	K562	blood:
41	chr1:228353068..228353852-chr3:127316874..127317731,2	Hela-S3	cervix:
42	chr1:149858478..149860585-chr1:228353320..228355581,2	MCF-7	breast:
43	chr1:228353308..228353903-chr6:42714301..42715058,2	Hela-S3	cervix:
44	chr1:228353118..228354912-chr1:228591904..228594294,2	MCF-7	breast:
45	chr1:228291320..228293457-chr1:228336716..228339227,2	K562	blood:
46	chr1:228359729..228361744-chr1:228520707..228523201,2	K562	blood:
47	chr1:228343198..228344704-chr1:228404539..228407474,2	MCF-7	breast:
48	chr1:228269773..228272364-chr1:228352112..228354622,6	MCF-7	breast:
49	chr1:228352180..228354320-chr1:228400730..228402843,3	MCF-7	breast:
50	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJC2-1	chr1:228348810-228349358	NONHSAT009993
2	lnc-C1orf148-1	chr1:228352355-228352549	NONHSAT009994
3	lnc-C1orf148-1	chr1:228353175-228353213	NR_103540
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
IBA57-AS1	TF binding region
IBA57	CpG island
IBA57-AS1	CpG island
ENSG00000165912	chromatin interactions
ENSG00000227625	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000118197	chromatin interactions
ENSG00000269934	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000108641	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000166130	chromatin interactions
ENSG00000143774	chromatin interactions
ENSG00000183963	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000163870	chromatin interactions
ENSG00000214078	chromatin interactions
ENSG00000215811	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000120868	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000141570	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000060656	chromatin interactions
ENSG00000166484	chromatin interactions
ENSG00000019485	chromatin interactions
ENSG00000264944	chromatin interactions
ENSG00000113368	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000135776	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000269890	chromatin interactions
ENSG00000244462	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000109971	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000141682	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000198911	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000168148	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000073111	chromatin interactions

Extended variants
information (count: 766 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7524743	chr1:228338939-228338940	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532464162	chr1:228338954-228338955	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546006833	chr1:228338969-228338970	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542804025	chr1:228338971-228338972	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs137958506	chr1:228338987-228338988	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142364030	chr1:228339068-228339069	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562990917	chr1:228339124-228339125	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562370286	chr1:228339160-228339161	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531774628	chr1:228339219-228339220	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371863508	chr1:228339258-228339259	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531274217	chr1:228339278-228339279	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187728881	chr1:228339282-228339283	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569697091	chr1:228339299-228339300	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114243429	chr1:228339302-228339303	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145937082	chr1:228339320-228339321	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545400294	chr1:228339322-228339323	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373414343	chr1:228339388-228339389	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113249613	chr1:228339404-228339405	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs60628313	chr1:228339408-228339409	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554404725	chr1:228339411-228339412	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144568115	chr1:228339419-228339420	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536992737	chr1:228339440-228339441	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148460289	chr1:228339451-228339452	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576859924	chr1:228339596-228339597	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372440047	chr1:228339681-228339682	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74142605	chr1:228339746-228339747	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547572041	chr1:228339756-228339757	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567394999	chr1:228339788-228339789	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74505122	chr1:228339804-228339805	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs73095408	chr1:228339830-228339831	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542050630	chr1:228339836-228339837	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs369984158	chr1:228339839-228339840	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs562317054	chr1:228339852-228339853	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs531209872	chr1:228339853-228339854	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs551330646	chr1:228339993-228339994	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs150642719	chr1:228339995-228339996	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs112707342	chr1:228339996-228339997	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs529889558	chr1:228340035-228340036	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552205022	chr1:228340063-228340064	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144664562	chr1:228340076-228340077	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77937984	chr1:228340139-228340140	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547976714	chr1:228340144-228340145	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567939633	chr1:228340154-228340155	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373668306	chr1:228340185-228340186	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61827461	chr1:228340210-228340211	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369258193	chr1:228340212-228340213	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549641464	chr1:228340311-228340312	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569387056	chr1:228340356-228340357	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192169929	chr1:228340357-228340358	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377169397	chr1:228340363-228340364	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228329000-228339400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:228329000-228339600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:228331400-228341800	Weak transcription	Psoas Muscle	Psoas
4	chr1:228331600-228341000	Genic enhancers	Fetal Thymus	thymus
5	chr1:228332400-228339400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:228332800-228339000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:228332800-228349800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:228333200-228342200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:228333200-228344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:228333800-228350400	Weak transcription	Primary B cells from cord blood	blood
11	chr1:228334200-228340000	Genic enhancers	Spleen	Spleen
12	chr1:228335800-228339600	Enhancers	Right Atrium	heart
13	chr1:228335800-228339800	Enhancers	Fetal Lung	lung
14	chr1:228336000-228339000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:228336000-228342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:228336200-228339400	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr1:228336400-228339200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:228336400-228339200	Enhancers	HSMM	muscle
19	chr1:228336400-228339400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:228336400-228339600	Enhancers	NHDF-Ad	bronchial
21	chr1:228336600-228339400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:228336600-228339600	Enhancers	Left Ventricle	heart
23	chr1:228336600-228340400	Enhancers	Fetal Heart	heart
24	chr1:228336600-228341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:228336600-228342000	Weak transcription	Primary T cells from cord blood	blood
26	chr1:228336800-228339000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:228336800-228339000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr1:228336800-228339200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:228336800-228339400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:228336800-228339400	Enhancers	Stomach Mucosa	stomach
31	chr1:228336800-228339600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:228336800-228340000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:228336800-228350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:228337000-228339000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
35	chr1:228337000-228339000	Enhancers	HMEC	breast
36	chr1:228337000-228339200	Enhancers	NH-A	brain
37	chr1:228337000-228339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:228337000-228339400	Enhancers	Osteobl	bone
39	chr1:228337000-228339800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:228337000-228341800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:228337000-228342200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:228337000-228343000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:228337200-228339000	Weak transcription	Liver	Liver
44	chr1:228337200-228339800	Enhancers	K562	blood
45	chr1:228337200-228340000	Enhancers	Fetal Muscle Leg	muscle
46	chr1:228337200-228340400	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:228337200-228342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:228337200-228344400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:228337400-228339000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr1:228337400-228339200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach

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