Variant report

Variant	nsv579424
Chromosome Location	chr19:36630803-36633645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:746)
CpG islands
(count:610)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:36630542-36631057	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:36630728-36631120	K562	blood:	n/a	n/a
3	ATF2	chr19:36630483-36631209	GM12878	blood:	n/a	n/a
4	ATF2	chr19:36630687-36631128	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr19:36630130-36631481	A549	lung:	n/a	n/a
6	ATF3	chr19:36630710-36631110	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr19:36630272-36631259	A549	lung:	n/a	n/a
8	ATF3	chr19:36630699-36631185	K562	blood:	n/a	n/a
9	ATF3	chr19:36630769-36631116	K562	blood:	n/a	n/a
10	ATF3	chr19:36631989-36632696	A549	lung:	n/a	n/a
11	ATF3	chr19:36630658-36631045	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr19:36631334-36631848	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr19:36630353-36631126	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:36630298-36630890	K562	blood:	n/a	n/a
15	BACH1	chr19:36632323-36632586	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr19:36630412-36631143	GM12878	blood:	n/a	n/a
17	BCL3	chr19:36632007-36632680	A549	lung:	n/a	n/a
18	BCL3	chr19:36630064-36632006	A549	lung:	n/a	chr19:36631344-36631353 chr19:36630417-36630426
19	BCL3	chr19:36630076-36631337	A549	lung:	n/a	chr19:36630417-36630426
20	BCLAF1	chr19:36630357-36631194	GM12878	blood:	n/a	chr19:36630417-36630426
21	BHLHE40	chr19:36630416-36631031	A549	lung:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
22	BHLHE40	chr19:36630418-36631103	HepG2	liver:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
23	BHLHE40	chr19:36630287-36631156	GM12878	blood:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
24	BHLHE40	chr19:36630285-36631266	K562	blood:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
25	BHLHE40	chr19:36631732-36631828	GM12878	blood:	n/a	n/a
26	BRCA1	chr19:36630650-36631022	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr19:36630459-36631550	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr19:36630629-36630956	HepG2	liver:	n/a	n/a
29	BRCA1	chr19:36630549-36631080	GM12878	blood:	n/a	n/a
30	CBX3	chr19:36630722-36631013	K562	blood:	n/a	n/a
31	CBX3	chr19:36630127-36631153	K562	blood:	n/a	n/a
32	CCNT2	chr19:36630347-36631234	K562	blood:	n/a	n/a
33	CEBPB	chr19:36630816-36631001	HepG2	liver:	n/a	n/a
34	CEBPB	chr19:36630787-36631195	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr19:36630330-36631652	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr19:36630085-36631426	A549	lung:	n/a	n/a
37	CEBPD	chr19:36630720-36631166	K562	blood:	n/a	n/a
38	CEBPD	chr19:36630476-36631243	HepG2	liver:	n/a	n/a
39	CHD1	chr19:36630264-36631277	GM12878	blood:	n/a	n/a
40	CHD1	chr19:36631110-36631120	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr19:36631499-36631890	GM12878	blood:	n/a	n/a
42	CHD2	chr19:36630455-36631186	K562	blood:	n/a	n/a
43	CHD2	chr19:36630455-36631012	HepG2	liver:	n/a	n/a
44	CHD2	chr19:36630466-36631082	GM12878	blood:	n/a	n/a
45	CHD2	chr19:36630389-36631195	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr19:36631423-36631854	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr19:36632082-36632385	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr19:36632478-36632491	GM12878	blood:	n/a	n/a
49	CHD2	chr19:36630510-36631056	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr19:36630208-36632423	A549	lung:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36631141-36631191	NHDF-neo	bronchial:	n/a
2	chr19:36630902-36630952	HL-60	blood:	n/a
3	chr19:36631318-36631368	AoSMC	blood vessel:	n/a
4	chr19:36630882-36630932	GM12878	blood:	n/a
5	chr19:36631141-36631191	HUVEC	blood vessel:	n/a
6	chr19:36630914-36630964	HCM	heart:	n/a
7	chr19:36631074-36631124	HAEpiC	amniotic membrane:	n/a
8	chr19:36633207-36633257	A549	lung:	n/a
9	chr19:36630888-36630938	MCF10A-Er-Src	breast:	n/a
10	chr19:36630902-36630952	SK-N-MC	brain:	n/a
11	chr19:36633213-36633263	HCT-116	colon:	n/a
12	chr19:36630882-36630932	U87	brain:	n/a
13	chr19:36630882-36630932	HEEpiC	esophagus:	n/a
14	chr19:36633207-36633257	Hepatocyte	liver:	n/a
15	chr19:36631318-36631368	SKMC	muscle:	n/a
16	chr19:36630914-36630964	IMR90	lung:	fetal
17	chr19:36631141-36631191	HCPEpiC	choroid plexus:	n/a
18	chr19:36630888-36630938	RPTEC	kidney:	n/a
19	chr19:36631141-36631191	GM12878	blood:	n/a
20	chr19:36630902-36630952	HRCEpiC	kidney:	n/a
21	chr19:36630902-36630952	BE2_C	brain:	n/a
22	chr19:36633207-36633257	HRE	kidney:	n/a
23	chr19:36631141-36631191	NB4	blood:	n/a
24	chr19:36630888-36630938	Hela-S3	cervix:	n/a
25	chr19:36631318-36631368	HAEpiC	amniotic membrane:	n/a
26	chr19:36633207-36633257	AG09309	skin:	n/a
27	chr19:36631058-36631108	ECC-1	luminal epithelium:	n/a
28	chr19:36631058-36631108	AG04450	lung:	fetal
29	chr19:36631074-36631124	GM12891	blood:	n/a
30	chr19:36631058-36631108	HL-60	blood:	n/a
31	chr19:36630882-36630932	AG04450	lung:	fetal
32	chr19:36630902-36630952	SK-N-SH_RA	brain:	n/a
33	chr19:36631141-36631191	CMK	blood:	n/a
34	chr19:36630902-36630952	PANC-1	pancreas:	n/a
35	chr19:36630914-36630964	GM06990	blood:	n/a
36	chr19:36630914-36630964	GM12891	blood:	n/a
37	chr19:36633207-36633257	ovcar-3	ovarian:	n/a
38	chr19:36633213-36633263	ECC-1	luminal epithelium:	n/a
39	chr19:36633207-36633257	NH-A	brain:	n/a
40	chr19:36631058-36631108	Caco-2	colon:	n/a
41	chr19:36630914-36630964	Jurkat	blood:	n/a
42	chr19:36633207-36633257	HRCEpiC	kidney:	n/a
43	chr19:36633213-36633263	A549	lung:	n/a
44	chr19:36631318-36631368	BJ	skin:	n/a
45	chr19:36630888-36630938	PFSK-1	brain:	n/a
46	chr19:36631074-36631124	H1-hESC	embryonic stem cell:	embryo
47	chr19:36630888-36630938	HUVEC	blood vessel:	n/a
48	chr19:36633207-36633257	GM12892	blood:	n/a
49	chr19:36630882-36630932	SK-N-SH_RA	brain:	n/a
50	chr19:36630914-36630964	Caco-2	colon:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228400809..228401396-chr19:36631414..36632120,2	Hela-S3	cervix:
2	chr19:36630683..36631317-chr22:43010387..43011247,2	Hela-S3	cervix:
3	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
4	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
5	chr12:96793870..96794769-chr19:36631076..36631914,2	Hela-S3	cervix:
6	chr19:36630738..36632299-chr19:36705733..36707758,2	MCF-7	breast:
7	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
8	chr19:36630769..36631425-chr3:57678429..57679174,2	Hela-S3	cervix:
9	chr10:94352936..94353453-chr19:36630960..36631661,2	Hela-S3	cervix:
10	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
11	chr16:9185392..9186090-chr19:36630875..36631576,2	Hela-S3	cervix:
12	chr17:16283924..16284578-chr19:36631010..36631547,2	Hela-S3	cervix:
13	chr16:29936944..29937902-chr19:36630893..36631603,2	Hela-S3	cervix:
14	chr19:36630466..36632159-chr19:36704253..36707369,3	K562	blood:
15	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
16	chr17:80416314..80417083-chr19:36630660..36631409,2	Hela-S3	cervix:
17	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
18	chr17:40828184..40828848-chr19:36631342..36632165,2	Hela-S3	cervix:
19	chr19:36629161..36631921-chr19:37341375..37343285,2	MCF-7	breast:
20	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
21	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
22	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
23	chr13:38923439..38924342-chr19:36630421..36631091,2	Hela-S3	cervix:
24	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
25	chr19:36391220..36392948-chr19:36631072..36632593,2	MCF-7	breast:
26	chr19:36629391..36631341-chr19:38851035..38853209,2	MCF-7	breast:
27	chr19:36630278..36632151-chr19:36704046..36706551,3	MCF-7	breast:
28	chr19:36544655..36547364-chr19:36630776..36632492,2	K562	blood:
29	chr10:120840114..120840715-chr19:36630815..36631334,2	Hela-S3	cervix:
30	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:

No data

Variant related genes	Relation type
CAPNS1	TF binding region
CAPNS1	CpG island
ENSG00000170315	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000105254	chromatin interactions
ENSG00000241933	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000266963	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000174839	chromatin interactions
ENSG00000267090	chromatin interactions
ENSG00000174943	chromatin interactions
ENSG00000161281	chromatin interactions
ENSG00000105258	chromatin interactions
ENSG00000167635	chromatin interactions
ENSG00000107581	chromatin interactions
ENSG00000068137	chromatin interactions
ENSG00000138160	chromatin interactions
ENSG00000197863	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000161277	chromatin interactions
ENSG00000251247	chromatin interactions
ENSG00000182831	chromatin interactions
ENSG00000075702	chromatin interactions
ENSG00000167604	chromatin interactions
ENSG00000059758	chromatin interactions
ENSG00000196357	chromatin interactions
ENSG00000120686	chromatin interactions
ENSG00000105261	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17884680	chr19:36630803-36630804	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs191836970	chr19:36630833-36630834	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs535622147	chr19:36630841-36630842	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs564244448	chr19:36630865-36630866	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs572946344	chr19:36630883-36630884	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs207477196	chr19:36630923-36630924	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
7	rs17880869	chr19:36630943-36630944	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
8	rs541232754	chr19:36630949-36630950	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
9	rs62111389	chr19:36630973-36630974	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs62111390	chr19:36630978-36630979	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
11	rs368160349	chr19:36631004-36631005	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs147046811	chr19:36631022-36631023	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
13	rs17878759	chr19:36631042-36631043	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs28623315	chr19:36631058-36631059	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
15	rs147924320	chr19:36631081-36631082	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs188595072	chr19:36631087-36631088	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
17	rs562715648	chr19:36631117-36631118	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs533395109	chr19:36631131-36631132	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
19	rs551575229	chr19:36631141-36631142	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
20	rs17887220	chr19:36631238-36631239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
21	rs192313179	chr19:36631286-36631287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
22	rs527786300	chr19:36631308-36631309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
23	rs79014621	chr19:36631313-36631314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
24	rs567535186	chr19:36631319-36631320	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs533276256	chr19:36631340-36631341	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
26	rs538122039	chr19:36631371-36631372	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
27	rs185151402	chr19:36631455-36631456	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs75478619	chr19:36631459-36631460	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs551330209	chr19:36631557-36631558	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs17887174	chr19:36631569-36631570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs17886770	chr19:36631586-36631587	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17882630	chr19:36631587-36631588	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs540344044	chr19:36631619-36631620	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
34	rs17885022	chr19:36631640-36631641	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs17882128	chr19:36631648-36631649	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
36	rs140132809	chr19:36631670-36631671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs562840521	chr19:36631680-36631681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs373692548	chr19:36631717-36631718	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs528629683	chr19:36631767-36631768	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs184528370	chr19:36631770-36631771	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs527746884	chr19:36631845-36631846	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs375584637	chr19:36631850-36631851	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs17855942	chr19:36631926-36631927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs567500165	chr19:36631958-36631959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs531821831	chr19:36631998-36631999	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs17855943	chr19:36632013-36632014	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs550053789	chr19:36632024-36632025	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs17881832	chr19:36632030-36632031	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs17879825	chr19:36632054-36632055	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs571956167	chr19:36632056-36632057	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36630000-36632200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:36630000-36632200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:36630200-36631800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:36630200-36631800	Bivalent/Poised TSS	HepG2	liver
5	chr19:36630200-36632200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36630200-36632200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:36630200-36632200	Active TSS	Brain Anterior Caudate	brain
8	chr19:36630200-36632200	Active TSS	Brain Cingulate Gyrus	brain
9	chr19:36630200-36632200	Active TSS	Brain Hippocampus Middle	brain
10	chr19:36630200-36632200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:36630200-36632200	Active TSS	Colonic Mucosa	Colon
12	chr19:36630200-36632200	Active TSS	Colon Smooth Muscle	Colon
13	chr19:36630200-36632200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:36630200-36632200	Active TSS	Fetal Lung	lung
15	chr19:36630200-36632200	Active TSS	Left Ventricle	heart
16	chr19:36630200-36632200	Active TSS	Psoas Muscle	Psoas
17	chr19:36630200-36632200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:36630200-36632200	Active TSS	Right Atrium	heart
19	chr19:36630200-36632200	Active TSS	Right Ventricle	heart
20	chr19:36630200-36632200	Active TSS	K562	blood
21	chr19:36630200-36632400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:36630200-36632400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:36630200-36632400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:36630200-36632400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:36630200-36632400	Active TSS	Primary T cells from cord blood	blood
26	chr19:36630200-36632400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:36630200-36632400	Active TSS	Aorta	Aorta
28	chr19:36630200-36632400	Active TSS	Fetal Brain Female	brain
29	chr19:36630200-36632400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr19:36630200-36632600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr19:36630200-36632600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:36630200-36632600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:36630200-36632600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr19:36630200-36632600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:36630200-36632800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr19:36630200-36632800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr19:36630200-36632800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:36630200-36632800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr19:36630400-36632200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:36630400-36632200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:36630400-36632200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:36630400-36632200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:36630400-36632200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:36630400-36632200	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr19:36630400-36632200	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr19:36630400-36632200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr19:36630400-36632200	Active TSS	Brain Angular Gyrus	brain
48	chr19:36630400-36632200	Active TSS	Brain Substantia Nigra	brain
49	chr19:36630400-36632200	Active TSS	Duodenum Mucosa	Duodenum
50	chr19:36630400-36632200	Active TSS	Fetal Brain Male	brain

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