Variant report

Variant	nsv482049
Chromosome Location	chr2:20646835-20649200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:725)
CpG islands
(count:489)
Chromatin interactive
region (count:80)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:725 , 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	chr2:20648454-20651108	HepG2	liver:	n/a	chr2:20650872-20650887
2	ARID3A	chr2:20646407-20647064	HepG2	liver:	n/a	n/a
3	ATF1	chr2:20646579-20646928	K562	blood:	n/a	n/a
4	ATF2	chr2:20646527-20647022	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:20646414-20647041	GM12878	blood:	n/a	n/a
6	ATF2	chr2:20646268-20647037	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:20646530-20647056	GM12878	blood:	n/a	n/a
8	ATF3	chr2:20647413-20647870	A549	lung:	n/a	n/a
9	ATF3	chr2:20648409-20648927	A549	lung:	n/a	n/a
10	ATF3	chr2:20646643-20647103	A549	lung:	n/a	n/a
11	BACH1	chr2:20647721-20648095	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr2:20647142-20647877	A549	lung:	n/a	n/a
13	BCL3	chr2:20649164-20650887	A549	lung:	n/a	n/a
14	BCL3	chr2:20645995-20647064	A549	lung:	n/a	chr2:20646612-20646625 chr2:20646174-20646183
15	BCL3	chr2:20646488-20647152	A549	lung:	n/a	chr2:20646612-20646625
16	BCLAF1	chr2:20646397-20647069	GM12878	blood:	n/a	chr2:20646612-20646625
17	BHLHE40	chr2:20646412-20647899	HepG2	liver:	n/a	chr2:20646612-20646628
18	BHLHE40	chr2:20647636-20647714	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:20646549-20647131	GM12878	blood:	n/a	chr2:20646612-20646628
20	BHLHE40	chr2:20646853-20646857	K562	blood:	n/a	n/a
21	BRCA1	chr2:20649108-20650942	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:20646510-20646956	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr2:20648361-20650891	HepG2	liver:	n/a	n/a
24	BRCA1	chr2:20646446-20648108	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:20648259-20648765	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr2:20646673-20647023	K562	blood:	n/a	n/a
27	CCNT2	chr2:20646476-20647288	K562	blood:	n/a	n/a
28	CEBPB	chr2:20646639-20647984	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:20646498-20647021	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:20649167-20651005	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr2:20647838-20648144	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:20646734-20646963	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:20646743-20646933	HepG2	liver:	n/a	n/a
34	CEBPD	chr2:20646279-20647254	HepG2	liver:	n/a	n/a
35	CEBPD	chr2:20646495-20647080	HepG2	liver:	n/a	n/a
36	CEBPZ	chr2:20649144-20650451	HepG2	liver:	n/a	n/a
37	CHD1	chr2:20646816-20647191	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr2:20647391-20647683	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr2:20645950-20651592	IMR90	lung:	n/a	n/a
40	CHD2	chr2:20646081-20647929	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr2:20646293-20646920	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr2:20649191-20650908	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr2:20646258-20650947	HepG2	liver:	n/a	n/a
44	CHD2	chr2:20647433-20647658	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr2:20646333-20647028	GM12878	blood:	n/a	n/a
46	CREB1	chr2:20646303-20648039	A549	lung:	n/a	n/a
47	CREB1	chr2:20647177-20648120	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr2:20646219-20647114	GM12878	blood:	n/a	n/a
49	CREB1	chr2:20646623-20647026	A549	lung:	n/a	n/a
50	CTBP2	chr2:20647202-20648492	H1-hESC	embryonic stem cell:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:20647393-20647443	Jurkat	blood:	n/a
2	chr2:20647393-20647443	Jurkat	blood:	n/a
3	chr2:20646816-20646866	HRE	kidney:	n/a
4	chr2:20647373-20647423	CMK	blood:	n/a
5	chr2:20646880-20646930	HAEpiC	amniotic membrane:	n/a
6	chr2:20646816-20646866	GM12891	blood:	n/a
7	chr2:20646825-20646875	Hela-S3	cervix:	n/a
8	chr2:20648194-20648244	BJ	skin:	n/a
9	chr2:20648580-20648630	NHBE	bronchial:	n/a
10	chr2:20647373-20647423	H1-hESC	embryonic stem cell:	embryo
11	chr2:20647987-20648037	HEK293	kidney:	embryo
12	chr2:20648194-20648244	SK-N-MC	brain:	n/a
13	chr2:20648194-20648244	GM19239	blood:	n/a
14	chr2:20646880-20646930	Hepatocyte	liver:	n/a
15	chr2:20646816-20646866	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:20646825-20646875	SK-N-MC	brain:	n/a
17	chr2:20648194-20648244	HIPEpiC	eye:	n/a
18	chr2:20646880-20646930	SK-N-SH_RA	brain:	n/a
19	chr2:20647987-20648037	HMEC	breast:	n/a
20	chr2:20646825-20646875	HUVEC	blood vessel:	n/a
21	chr2:20648580-20648630	SK-N-SH	brain:	n/a
22	chr2:20646825-20646875	NH-A	brain:	n/a
23	chr2:20646880-20646930	NH-A	brain:	n/a
24	chr2:20647373-20647423	AG04449	skin:	fetal
25	chr2:20646825-20646875	SK-N-SH_RA	brain:	n/a
26	chr2:20646880-20646930	SK-N-SH	brain:	n/a
27	chr2:20648580-20648630	HEEpiC	esophagus:	n/a
28	chr2:20648194-20648244	LNCaP	prostate:	n/a
29	chr2:20648580-20648630	HNPCEpiC	eye:	n/a
30	chr2:20648194-20648244	NB4	blood:	n/a
31	chr2:20647393-20647443	CMK	blood:	n/a
32	chr2:20646880-20646930	GM06990	blood:	n/a
33	chr2:20646880-20646930	MCF10A-Er-Src	breast:	n/a
34	chr2:20646880-20646930	HEEpiC	esophagus:	n/a
35	chr2:20648580-20648630	Hepatocyte	liver:	n/a
36	chr2:20647393-20647443	NHBE	bronchial:	n/a
37	chr2:20648580-20648630	Caco-2	colon:	n/a
38	chr2:20646816-20646866	HNPCEpiC	eye:	n/a
39	chr2:20647393-20647443	MCF10A-Er-Src	breast:	n/a
40	chr2:20648194-20648244	HRCEpiC	kidney:	n/a
41	chr2:20648194-20648244	SK-N-SH	brain:	n/a
42	chr2:20646816-20646866	NT2-D1	testis:	n/a
43	chr2:20648194-20648244	AG09319	gingival:	n/a
44	chr2:20648580-20648630	NHDF-neo	bronchial:	n/a
45	chr2:20647393-20647443	Hepatocyte	liver:	n/a
46	chr2:20648580-20648630	HCM	heart:	n/a
47	chr2:20647987-20648037	HEEpiC	esophagus:	n/a
48	chr2:20647987-20648037	HepG2	liver:	n/a
49	chr2:20646880-20646930	SK-N-MC	brain:	n/a
50	chr2:20646880-20646930	AG09309	skin:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:20646342..20647314-chr7:73097815..73098381,2	Hela-S3	cervix:
2	chr19:3985368..3985912-chr2:20646519..20647248,2	Hela-S3	cervix:
3	chr1:210546745..210548327-chr2:20646450..20647213,4	Hela-S3	cervix:
4	chr2:20598069..20599864-chr2:20647082..20649646,2	MCF-7	breast:
5	chr2:20647900..20649947-chr2:20748002..20750388,3	MCF-7	breast:
6	chr2:20646716..20647318-chr9:140171644..140172451,2	Hela-S3	cervix:
7	chr2:20574805..20576897-chr2:20646871..20649398,2	MCF-7	breast:
8	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
9	chr2:20593621..20596225-chr2:20647006..20648525,2	K562	blood:
10	chr2:11671004..11673308-chr2:20648459..20650037,2	MCF-7	breast:
11	chr2:20647398..20650409-chr2:20654175..20656821,4	K562	blood:
12	chr2:20648813..20650365-chr8:143807958..143810608,2	MCF-7	breast:
13	chr2:20647548..20649873-chr2:20806616..20809120,2	MCF-7	breast:
14	chr1:169454285..169455235-chr2:20646608..20647266,2	Hela-S3	cervix:
15	chr2:20646699..20647341-chr2:85788576..85789168,2	Hela-S3	cervix:
16	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:
17	chr2:20424066..20426931-chr2:20646792..20649592,2	MCF-7	breast:
18	chr2:20550911..20553369-chr2:20646204..20648737,2	K562	blood:
19	chr2:20646307..20647103-chr22:38713427..38714210,2	Hela-S3	cervix:
20	chr2:20646651..20647442-chr9:100818900..100819503,2	Hela-S3	cervix:
21	chr17:42401450..42402013-chr2:20646722..20647326,2	Hela-S3	cervix:
22	chr2:20645492..20647330-chr7:139044300..139046201,2	MCF-7	breast:
23	chr2:20646736..20647426-chrX:15692525..15693289,2	Hela-S3	cervix:
24	chr19:55918748..55919419-chr2:20646663..20647342,2	Hela-S3	cervix:
25	chr2:20647196..20649386-chr2:20825674..20827981,2	K562	blood:
26	chr2:20646529..20647115-chr4:25161901..25162696,2	Hela-S3	cervix:
27	chr1:180991495..180992148-chr2:20646410..20647305,2	Hela-S3	cervix:
28	chr2:20647678..20650094-chr2:20830839..20832383,2	K562	blood:
29	chr16:68268541..68270954-chr2:20645662..20648627,2	MCF-7	breast:
30	chr2:20647037..20648776-chr6:43826398..43828925,2	MCF-7	breast:
31	chr17:56084512..56085276-chr2:20646438..20647000,2	Hela-S3	cervix:
32	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
33	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:
34	chr2:20645482..20647454-chr9:137444146..137446326,2	MCF-7	breast:
35	chr14:64194294..64194896-chr2:20646784..20647401,2	Hela-S3	cervix:
36	chr2:20646534..20647520-chr5:892945..893546,2	Hela-S3	cervix:
37	chr2:20646900..20649686-chr2:20739028..20740892,2	MCF-7	breast:
38	chr16:56716057..56716888-chr2:20646736..20647316,2	Hela-S3	cervix:
39	chr2:20648875..20651258-chr7:86847173..86848866,2	MCF-7	breast:
40	chr2:20646893..20647434-chr8:145754128..145755056,2	Hela-S3	cervix:
41	chr11:64545581..64546435-chr2:20646790..20647326,2	Hela-S3	cervix:
42	chr17:57914924..57917331-chr2:20646962..20649237,2	MCF-7	breast:
43	chr2:20592640..20602218-chr2:20644635..20652468,15	MCF-7	breast:
44	chr2:20647080..20649987-chr2:27272850..27275008,2	MCF-7	breast:
45	chr2:20646440..20647310-chr6:10412379..10413350,2	Hela-S3	cervix:
46	chr2:20646773..20647721-chr6:144416345..144416949,2	Hela-S3	cervix:
47	chr12:122240345..122240923-chr2:20646672..20647394,2	Hela-S3	cervix:
48	chr2:20645423..20650748-chr2:20698837..20705480,9	MCF-7	breast:
49	chr2:20647633..20649474-chr2:20706759..20709106,2	MCF-7	breast:
50	chr2:8821242..8823480-chr2:20647552..20650236,2	MCF-7	breast:

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RHOB	hsa-miR-223-3p	chr2:20648611-20648632
2	RHOB	hsa-miR-21-5p	chr2:20649129-20649150
3	RHOB	hsa-miR-30a-5p	chr2:20649111-20649132
4	RHOB	hsa-miR-223-3p	chr2:20648446-20648465
5	RHOB	hsa-miR-223-3p	chr2:20649093-20649100
6	RHOB	hsa-miR-30a-5p	chr2:20649125-20649132
7	RHOB	hsa-miR-223-3p	chr2:20649079-20649100
8	RHOB	hsa-miR-21-5p	chr2:20649143-20649149

Variant related genes	Relation type
RHOB	TF binding region
ENSG00000228950	TF binding region
RHOB	CpG island
ENSG00000228950	CpG island
ENSG00000136450	chromatin interactions
ENSG00000109618	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000028528	chromatin interactions
ENSG00000013306	chromatin interactions
ENSG00000187193	chromatin interactions
ENSG00000101901	chromatin interactions
ENSG00000231636	chromatin interactions
ENSG00000071462	chromatin interactions
ENSG00000115884	chromatin interactions
ENSG00000115486	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000145730	chromatin interactions
ENSG00000103067	chromatin interactions
ENSG00000118197	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000269038	chromatin interactions
ENSG00000232800	chromatin interactions
ENSG00000212171	chromatin interactions
ENSG00000170017	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000227150	chromatin interactions
ENSG00000169976	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000135823	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000204311	chromatin interactions
ENSG00000200397	chromatin interactions
ENSG00000269976	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000253741	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000231948	chromatin interactions
ENSG00000071539	chromatin interactions
ENSG00000227047	chromatin interactions
ENSG00000084693	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000166855	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000213923	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000038210	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000252216	chromatin interactions
ENSG00000126821	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000253806	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000224157	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000132466	chromatin interactions
ENSG00000137203	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000118640	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000213563	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000198113	chromatin interactions
ENSG00000117479	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000233416	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000130193	chromatin interactions
ENSG00000180228	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543700467	chr2:20646835-20646836	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
2	rs187592043	chr2:20646846-20646847	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
3	rs573311097	chr2:20646848-20646849	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
4	rs542561842	chr2:20646857-20646858	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
5	rs376654937	chr2:20646860-20646861	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
6	rs142159875	chr2:20646868-20646869	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
7	rs369192394	chr2:20646870-20646871	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
8	rs146047620	chr2:20646872-20646873	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
9	rs551826089	chr2:20646874-20646875	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
10	rs190672342	chr2:20646884-20646885	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
11	rs565051995	chr2:20646900-20646901	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
12	rs530875753	chr2:20646919-20646920	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
13	rs11541347	chr2:20646933-20646934	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
14	rs550886430	chr2:20646934-20646935	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
15	rs182910766	chr2:20646960-20646961	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
16	rs11541349	chr2:20646962-20646963	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
17	rs535485754	chr2:20646964-20646965	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
18	rs11541348	chr2:20646972-20646973	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
19	rs549333698	chr2:20646992-20646993	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a
20	rs566059207	chr2:20647026-20647027	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
21	rs112161123	chr2:20647033-20647034	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
22	rs372979673	chr2:20647043-20647044	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
23	rs535094023	chr2:20647082-20647083	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
24	rs551082761	chr2:20647085-20647086	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
25	rs557972851	chr2:20647133-20647134	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
26	rs577805469	chr2:20647145-20647146	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
27	rs537206429	chr2:20647172-20647173	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
28	rs557234173	chr2:20647202-20647203	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
29	rs202053864	chr2:20647213-20647214	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	55 gene(s)	Overlapped CNVs	n/a
30	rs200862679	chr2:20647215-20647216	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
31	rs368950198	chr2:20647217-20647218	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
32	rs145485033	chr2:20647235-20647236	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
33	rs7043	chr2:20647241-20647242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	53 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140880883	chr2:20647287-20647288	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
35	rs145127070	chr2:20647325-20647326	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
36	rs201715144	chr2:20647328-20647329	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
37	rs376971291	chr2:20647334-20647335	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
38	rs140649204	chr2:20647337-20647338	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
39	rs11541350	chr2:20647338-20647339	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
40	rs371439659	chr2:20647364-20647365	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
41	rs201522561	chr2:20647412-20647413	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
42	rs201421541	chr2:20647426-20647427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
43	rs61754182	chr2:20647430-20647431	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs62639992	chr2:20647431-20647432	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
45	rs550750241	chr2:20647444-20647445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs200628855	chr2:20647460-20647461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs529970135	chr2:20647512-20647513	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs147203679	chr2:20647526-20647527	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs142222635	chr2:20647586-20647587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs137856773	chr2:20647604-20647605	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20643600-20650000	Active TSS	Right Atrium	heart
2	chr2:20644600-20647000	Active TSS	Right Ventricle	heart
3	chr2:20644600-20650000	Active TSS	Psoas Muscle	Psoas
4	chr2:20645000-20650600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:20645200-20647200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:20645400-20647400	Active TSS	Brain Substantia Nigra	brain
7	chr2:20645400-20647600	Active TSS	Aorta	Aorta
8	chr2:20645400-20648600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:20645600-20647200	Active TSS	Brain Hippocampus Middle	brain
10	chr2:20645600-20647200	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:20645600-20647400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:20645600-20647400	Active TSS	Colon Smooth Muscle	Colon
13	chr2:20645600-20647400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:20645600-20648400	Active TSS	Brain Anterior Caudate	brain
15	chr2:20645600-20650000	Active TSS	Brain Angular Gyrus	brain
16	chr2:20646000-20647200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr2:20646000-20647200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:20646000-20647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:20646000-20647600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:20646000-20647600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:20646000-20648600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:20646000-20648600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:20646000-20648800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:20646000-20649000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:20646000-20649600	Active TSS	HSMMtube	muscle
26	chr2:20646000-20649800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr2:20646000-20650000	Active TSS	Ovary	ovary
28	chr2:20646000-20650200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:20646200-20647000	Active TSS	Fetal Brain Female	brain
30	chr2:20646200-20647000	Active TSS	K562	blood
31	chr2:20646200-20647200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:20646200-20647200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:20646200-20647200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:20646200-20647200	Active TSS	Left Ventricle	heart
35	chr2:20646200-20647200	Active TSS	NHDF-Ad	bronchial
36	chr2:20646200-20647400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:20646200-20647400	Active TSS	Liver	Liver
38	chr2:20646200-20647400	Active TSS	Gastric	stomach
39	chr2:20646200-20647400	Active TSS	Rectal Smooth Muscle	rectum
40	chr2:20646200-20647400	Active TSS	Stomach Mucosa	stomach
41	chr2:20646200-20647600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr2:20646200-20647600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:20646200-20647600	Active TSS	Esophagus	oesophagus
44	chr2:20646200-20647600	Active TSS	Lung	lung
45	chr2:20646200-20648400	Active TSS	Fetal Lung	lung
46	chr2:20646200-20648600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:20646200-20648600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:20646200-20648600	Active TSS	HSMM	muscle
49	chr2:20646200-20649000	Active TSS	Fetal Kidney	kidney
50	chr2:20646200-20649000	Active TSS	Placenta Amnion	Placenta Amnion

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