Variant report

Variant	nsv934250
Chromosome Location	chr17:19551657-19561421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:763)
CpG islands
(count:671)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:19560630-19561122	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:19552093-19552562	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:19551661-19551853	HepG2	liver:	n/a	n/a
4	ATF2	chr17:19552055-19552485	GM12878	blood:	n/a	n/a
5	ATF3	chr17:19551898-19552083	GM12878	blood:	n/a	n/a
6	ATF3	chr17:19551827-19552141	HepG2	liver:	n/a	n/a
7	ATF3	chr17:19551626-19552502	A549	lung:	n/a	n/a
8	ATF3	chr17:19551729-19552179	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr17:19551829-19552191	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr17:19550446-19552642	A549	lung:	n/a	n/a
11	ATF3	chr17:19551755-19552255	GM12878	blood:	n/a	n/a
12	ATF3	chr17:19551873-19552108	K562	blood:	n/a	n/a
13	BACH1	chr17:19550451-19552583	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr17:19550670-19551696	A549	lung:	n/a	n/a
15	BCL3	chr17:19550085-19552757	A549	lung:	n/a	chr17:19551756-19551765 chr17:19551950-19551963 chr17:19551890-19551903 chr17:19551889-19551898 chr17:19552473-19552482
16	BCLAF1	chr17:19551874-19552539	GM12878	blood:	n/a	chr17:19551950-19551963 chr17:19551890-19551903 chr17:19551889-19551898 chr17:19552473-19552482
17	BHLHE40	chr17:19552263-19552532	A549	lung:	n/a	n/a
18	BHLHE40	chr17:19551302-19552678	GM12878	blood:	n/a	n/a
19	BHLHE40	chr17:19551634-19552603	HepG2	liver:	n/a	n/a
20	BRCA1	chr17:19551652-19553111	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr17:19551668-19552624	HepG2	liver:	n/a	n/a
22	BRCA1	chr17:19552089-19552214	GM12878	blood:	n/a	n/a
23	CEBPB	chr17:19550701-19551669	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr17:19551067-19552637	A549	lung:	n/a	n/a
25	CEBPB	chr17:19556033-19556201	HepG2	liver:	n/a	n/a
26	CEBPB	chr17:19555393-19555706	HepG2	liver:	n/a	chr17:19555535-19555548
27	CEBPB	chr17:19551971-19552027	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr17:19552258-19552496	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr17:19551299-19551677	A549	lung:	n/a	n/a
30	CEBPB	chr17:19551295-19551678	IMR90	lung:	n/a	n/a
31	CEBPB	chr17:19555969-19556309	A549	lung:	n/a	n/a
32	CEBPB	chr17:19550280-19552716	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr17:19551277-19551692	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr17:19551257-19551699	MCF-7	breast:	n/a	n/a
35	CEBPB	chr17:19555988-19556295	HepG2	liver:	n/a	n/a
36	CEBPB	chr17:19555990-19556286	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr17:19554365-19554635	A549	lung:	n/a	n/a
38	CEBPB	chr17:19551990-19552554	HepG2	liver:	n/a	n/a
39	CEBPD	chr17:19552033-19552268	HepG2	liver:	n/a	n/a
40	CEBPD	chr17:19551654-19552475	HepG2	liver:	n/a	n/a
41	CHD1	chr17:19551622-19552445	GM12878	blood:	n/a	n/a
42	CHD1	chr17:19552243-19552958	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr17:19551390-19552525	HepG2	liver:	n/a	n/a
44	CHD2	chr17:19559477-19559560	HepG2	liver:	n/a	n/a
45	CHD2	chr17:19551171-19552486	GM12878	blood:	n/a	n/a
46	CHD2	chr17:19551861-19552548	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr17:19550299-19552621	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr17:19551266-19552461	A549	lung:	n/a	n/a
49	CREB1	chr17:19551831-19552230	A549	lung:	n/a	n/a
50	CREB1	chr17:19551271-19552718	HepG2	liver:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19557814-19557864	HCT-116	colon:	n/a
2	chr17:19551893-19551943	SK-N-MC	brain:	n/a
3	chr17:19552141-19552191	HCPEpiC	choroid plexus:	n/a
4	chr17:19551663-19551713	U87	brain:	n/a
5	chr17:19551663-19551713	HL-60	blood:	n/a
6	chr17:19556934-19556984	HRE	kidney:	n/a
7	chr17:19557724-19557774	Hela-S3	cervix:	n/a
8	chr17:19552182-19552232	HMEC	breast:	n/a
9	chr17:19555084-19555134	NH-A	brain:	n/a
10	chr17:19551762-19551812	T-47D	breast:	n/a
11	chr17:19552182-19552232	HRPEpiC	eye:	n/a
12	chr17:19557814-19557864	AG10803	skin:	n/a
13	chr17:19551762-19551812	HEK293	kidney:	embryo
14	chr17:19557814-19557864	Caco-2	colon:	n/a
15	chr17:19552141-19552191	AoSMC	blood vessel:	n/a
16	chr17:19552182-19552232	HNPCEpiC	eye:	n/a
17	chr17:19552393-19552443	NH-A	brain:	n/a
18	chr17:19556934-19556984	Caco-2	colon:	n/a
19	chr17:19557814-19557864	NH-A	brain:	n/a
20	chr17:19551663-19551713	AG09309	skin:	n/a
21	chr17:19551762-19551812	HRE	kidney:	n/a
22	chr17:19551893-19551943	PANC-1	pancreas:	n/a
23	chr17:19557814-19557864	GM06990	blood:	n/a
24	chr17:19552182-19552232	IMR90	lung:	fetal
25	chr17:19557814-19557864	HEK293	kidney:	embryo
26	chr17:19557724-19557774	LNCaP	prostate:	n/a
27	chr17:19551762-19551812	HMEC	breast:	n/a
28	chr17:19552057-19552107	HUVEC	blood vessel:	n/a
29	chr17:19551762-19551812	IMR90	lung:	fetal
30	chr17:19556934-19556984	BE2_C	brain:	n/a
31	chr17:19555084-19555134	Jurkat	blood:	n/a
32	chr17:19552182-19552232	NH-A	brain:	n/a
33	chr17:19551893-19551943	HUVEC	blood vessel:	n/a
34	chr17:19557724-19557774	AG04450	lung:	fetal
35	chr17:19555084-19555134	AG10803	skin:	n/a
36	chr17:19556934-19556984	HCM	heart:	n/a
37	chr17:19551893-19551943	SKMC	muscle:	n/a
38	chr17:19551893-19551943	PFSK-1	brain:	n/a
39	chr17:19552141-19552191	HEK293	kidney:	embryo
40	chr17:19551762-19551812	HNPCEpiC	eye:	n/a
41	chr17:19551663-19551713	HRE	kidney:	n/a
42	chr17:19551663-19551713	ovcar-3	ovarian:	n/a
43	chr17:19555084-19555134	HRE	kidney:	n/a
44	chr17:19555084-19555134	SK-N-SH_RA	brain:	n/a
45	chr17:19552057-19552107	HRE	kidney:	n/a
46	chr17:19552057-19552107	HRCEpiC	kidney:	n/a
47	chr17:19557814-19557864	ovcar-3	ovarian:	n/a
48	chr17:19552057-19552107	Caco-2	colon:	n/a
49	chr17:19552141-19552191	K562	blood:	n/a
50	chr17:19551663-19551713	HepG2	liver:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:62190788..62191431-chr17:19551361..19552028,2	Hela-S3	cervix:
2	chr17:19551394..19551927-chr2:70520457..70521439,2	NB4	blood:
3	chr17:19551796..19552380-chr6:28891386..28892119,2	HCT-116	colon:
4	chr17:19551943..19552775-chr4:164088000..164088627,2	Hela-S3	cervix:
5	chr17:19550266..19552397-chr17:19557719..19560014,2	MCF-7	breast:
6	chr14:55493911..55494441-chr17:19551479..19552122,2	Hela-S3	cervix:
7	chr17:19549832..19553259-chr17:19553309..19555611,4	MCF-7	breast:
8	chr17:19552797..19555708-chr17:19557293..19559431,2	MCF-7	breast:
9	chr17:19549675..19554690-chr17:19558689..19564889,9	MCF-7	breast:
10	chr17:19551522..19552064-chr7:66309450..66309973,2	NB4	blood:
11	chr1:1259573..1260248-chr17:19551360..19552018,2	Hela-S3	cervix:
12	chr12:7052903..7053683-chr17:19551768..19552355,2	Hela-S3	cervix:
13	chr1:109505436..109506190-chr17:19551197..19551719,2	Hela-S3	cervix:
14	chr17:19551197..19552117-chr7:105161941..105162797,2	Hela-S3	cervix:
15	chr17:19549675..19554690-chr17:19558689..19564889,9	MCF-7	breast:
16	chr17:19552130..19552727-chr9:115095115..115095701,2	Hela-S3	cervix:
17	chr17:19558329..19562006-chr17:19563141..19565959,3	MCF-7	breast:
18	chr17:19550468..19552548-chr17:19574981..19577039,2	MCF-7	breast:
19	chr17:19550266..19552397-chr17:19557719..19560014,2	MCF-7	breast:
20	chr17:19550345..19551966-chr17:19622078..19623602,2	MCF-7	breast:
21	chr17:19552711..19555521-chr17:19564350..19566731,2	MCF-7	breast:
22	chr17:19265973..19268468-chr17:19549750..19551918,2	MCF-7	breast:
23	chr11:66886604..66887153-chr17:19551576..19552186,2	NB4	blood:
24	chr17:19553955..19556054-chr17:19560448..19564216,4	MCF-7	breast:
25	chr17:19551499..19552294-chr8:144373035..144373679,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC47A2-1	chr17:19552686-19553248	ENSG00000264932.1

No data

Variant related genes	Relation type
ENSG00000264932	TF binding region
ALDH3A2	TF binding region
ENSG00000252349	TF binding region
ENSG00000264932	CpG island
ALDH3A2	CpG island
ENSG00000252349	CpG island
ENSG00000185730	chromatin interactions
ENSG00000180638	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000264932	chromatin interactions
ENSG00000180008	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000127054	chromatin interactions
ENSG00000119314	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000145414	chromatin interactions
ENSG00000162604	chromatin interactions
ENSG00000262681	chromatin interactions
ENSG00000108641	chromatin interactions
ENSG00000230583	chromatin interactions
ENSG00000173120	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000162641	chromatin interactions
ENSG00000224051	chromatin interactions
ENSG00000121940	chromatin interactions
ENSG00000091127	chromatin interactions
ENSG00000252349	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369785882	chr17:19551706-19551707	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs143778736	chr17:19551727-19551728	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs16960266	chr17:19551745-19551746	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs151112259	chr17:19551877-19551878	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs571225645	chr17:19551912-19551913	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs544397573	chr17:19551914-19551915	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs562673860	chr17:19551938-19551939	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs141119627	chr17:19551943-19551944	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs572287146	chr17:19551993-19551994	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs551195428	chr17:19552003-19552004	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs571000418	chr17:19552007-19552008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs116904992	chr17:19552040-19552041	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs114897153	chr17:19552052-19552053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs567160555	chr17:19552080-19552081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs369325696	chr17:19552120-19552121	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs536113426	chr17:19552127-19552128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs562399103	chr17:19552131-19552132	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs557068998	chr17:19552136-19552137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs538428451	chr17:19552142-19552143	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs375453263	chr17:19552156-19552157	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs558432977	chr17:19552190-19552191	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs578107804	chr17:19552201-19552202	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs540736712	chr17:19552250-19552251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs372594133	chr17:19552254-19552255	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs554100509	chr17:19552274-19552275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs562321928	chr17:19552282-19552283	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs61737991	chr17:19552286-19552287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs543034626	chr17:19552301-19552302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs72547554	chr17:19552312-19552313	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs369182127	chr17:19552330-19552331	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs72547555	chr17:19552364-19552365	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs200274842	chr17:19552394-19552395	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs147190807	chr17:19552403-19552404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs376331435	chr17:19552404-19552405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112971072	chr17:19552412-19552413	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs564741231	chr17:19552473-19552474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs4646793	chr17:19552476-19552477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs1800870	chr17:19552477-19552478	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs547192468	chr17:19552480-19552481	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs150192527	chr17:19552485-19552486	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs187589469	chr17:19552550-19552551	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs200923336	chr17:19552651-19552652	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374373360	chr17:19552659-19552660	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs117553817	chr17:19552660-19552661	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs11204407	chr17:19552719-19552720	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs538538908	chr17:19552726-19552727	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs545937507	chr17:19552788-19552789	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs142180209	chr17:19552792-19552793	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs373603777	chr17:19552800-19552801	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs192016766	chr17:19552808-19552809	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19547400-19551800	Flanking Active TSS	Liver	Liver
2	chr17:19550200-19555200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:19550600-19551800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:19550600-19552000	Flanking Active TSS	HUVEC	blood vessel
5	chr17:19550600-19552800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:19550800-19551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:19550800-19551800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:19550800-19551800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr17:19550800-19551800	Flanking Active TSS	NHLF	lung
10	chr17:19550800-19553200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr17:19551000-19551800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:19551000-19551800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr17:19551000-19551800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr17:19551000-19551800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:19551000-19551800	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr17:19551000-19551800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr17:19551000-19551800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr17:19551000-19551800	Flanking Active TSS	GM12878-XiMat	blood
19	chr17:19551000-19551800	Flanking Active TSS	NH-A	brain
20	chr17:19551000-19552600	Flanking Active TSS	HMEC	breast
21	chr17:19551000-19553000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr17:19551000-19553200	Active TSS	Brain Substantia Nigra	brain
23	chr17:19551000-19553200	Bivalent/Poised TSS	Thymus	Thymus
24	chr17:19551000-19553200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr17:19551000-19553400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr17:19551000-19553400	Active TSS	Ovary	ovary
27	chr17:19551000-19553800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr17:19551000-19553800	Active TSS	Right Ventricle	heart
29	chr17:19551000-19554600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr17:19551200-19551800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:19551200-19551800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr17:19551200-19551800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr17:19551200-19551800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr17:19551200-19551800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:19551200-19551800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:19551200-19551800	Flanking Active TSS	Placenta	Placenta
37	chr17:19551200-19552000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:19551200-19552200	Active TSS	Primary T cells from cord blood	blood
39	chr17:19551200-19552600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr17:19551200-19552800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr17:19551200-19552800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr17:19551200-19552800	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr17:19551200-19552800	Active TSS	Brain Cingulate Gyrus	brain
44	chr17:19551200-19552800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr17:19551200-19552800	Active TSS	Gastric	stomach
46	chr17:19551200-19553000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:19551200-19553200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:19551200-19553200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr17:19551200-19553200	Active TSS	Colon Smooth Muscle	Colon
50	chr17:19551200-19553200	Active TSS	Left Ventricle	heart

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