Variant report

Variant	esv3389183
Chromosome Location	chr2:74211269-74213817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:626)
CpG islands
(count:366)
Chromatin interactive
region (count:41)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:74211326-74211357	K562	blood:	n/a	n/a
2	ATF2	chr2:74212625-74213013	GM12878	blood:	n/a	n/a
3	ATF2	chr2:74212607-74213446	GM12878	blood:	n/a	n/a
4	BACH1	chr2:74211411-74211511	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr2:74212645-74212932	GM12878	blood:	n/a	n/a
6	BCL3	chr2:74212575-74213048	GM12878	blood:	n/a	chr2:74212943-74212956 chr2:74213020-74213029
7	BCL3	chr2:74212626-74213352	A549	lung:	n/a	chr2:74212943-74212956 chr2:74213020-74213029
8	BCL3	chr2:74211413-74212163	GM12878	blood:	n/a	chr2:74211747-74211760 chr2:74211736-74211749 chr2:74211558-74211571 chr2:74211656-74211665 chr2:74211733-74211746
9	BCLAF1	chr2:74212500-74213039	GM12878	blood:	n/a	chr2:74212943-74212956 chr2:74213020-74213029
10	BHLHE40	chr2:74211820-74212175	A549	lung:	n/a	chr2:74212008-74212017 chr2:74212008-74212017
11	BHLHE40	chr2:74212881-74213323	K562	blood:	n/a	n/a
12	BHLHE40	chr2:74210634-74212405	HepG2	liver:	n/a	chr2:74212008-74212017 chr2:74211727-74211743 chr2:74211730-74211746 chr2:74211733-74211749 chr2:74211738-74211754 chr2:74212008-74212017
13	BHLHE40	chr2:74211363-74212283	K562	blood:	n/a	chr2:74212008-74212017 chr2:74211727-74211743 chr2:74211730-74211746 chr2:74211733-74211749 chr2:74211738-74211754 chr2:74212008-74212017
14	BHLHE40	chr2:74211850-74212168	HepG2	liver:	n/a	chr2:74212008-74212017 chr2:74212008-74212017
15	BHLHE40	chr2:74211343-74213300	GM12878	blood:	n/a	chr2:74212008-74212017 chr2:74211727-74211743 chr2:74211730-74211746 chr2:74211733-74211749 chr2:74211738-74211754 chr2:74212008-74212017
16	BRCA1	chr2:74212798-74213000	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr2:74210537-74211538	HCT-116	colon:	n/a	n/a
18	CCNT2	chr2:74211347-74213049	K562	blood:	n/a	chr2:74211893-74211902 chr2:74212839-74212848 chr2:74212028-74212037
19	CEBPB	chr2:74212902-74213096	K562	blood:	n/a	chr2:74212990-74213003
20	CEBPB	chr2:74210615-74211528	ECC-1	luminal epithelium:	n/a	chr2:74211129-74211140
21	CEBPB	chr2:74210469-74211382	MCF-7	breast:	n/a	chr2:74211129-74211140
22	CEBPB	chr2:74212654-74213059	GM12878	blood:	n/a	chr2:74212990-74213003
23	CEBPB	chr2:74211652-74211688	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:74212795-74213151	Hela-S3	cervix:	n/a	chr2:74212990-74213003
25	CEBPB	chr2:74210594-74211363	MCF-7	breast:	n/a	chr2:74211129-74211140
26	CEBPB	chr2:74212861-74213096	IMR90	lung:	n/a	chr2:74212990-74213003
27	CEBPD	chr2:74212458-74213023	HepG2	liver:	n/a	n/a
28	CEBPD	chr2:74211462-74212420	HepG2	liver:	n/a	n/a
29	CHD1	chr2:74212676-74213227	GM12878	blood:	n/a	n/a
30	CHD1	chr2:74211244-74212035	GM12878	blood:	n/a	n/a
31	CHD2	chr2:74211583-74213231	Hela-S3	cervix:	n/a	chr2:74212029-74212039
32	CHD2	chr2:74212909-74212915	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr2:74211517-74211698	K562	blood:	n/a	n/a
34	CHD2	chr2:74211966-74212310	K562	blood:	n/a	chr2:74212029-74212039
35	CHD2	chr2:74212781-74212936	K562	blood:	n/a	n/a
36	CHD2	chr2:74211402-74213369	GM12878	blood:	n/a	chr2:74212029-74212039
37	CHD2	chr2:74211498-74211528	HepG2	liver:	n/a	n/a
38	CREB1	chr2:74212011-74212343	A549	lung:	n/a	n/a
39	CREB1	chr2:74211591-74211967	A549	lung:	n/a	n/a
40	CTCF	chr2:74211280-74211430	GM12871	blood:	n/a	n/a
41	CTCF	chr2:74211513-74211552	GM10266	blood:	n/a	n/a
42	CTCF	chr2:74211777-74211783	GM12878	blood:	n/a	n/a
43	CTCF	chr2:74211380-74211530	GM12874	blood:	n/a	n/a
44	CTCF	chr2:74212754-74212878	GM12878	blood:	n/a	n/a
45	CTCF	chr2:74211520-74211670	GM12872	blood:	n/a	chr2:74211602-74211620 chr2:74211605-74211618
46	CTCF	chr2:74211380-74211530	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr2:74211680-74211830	GM12869	blood:	n/a	chr2:74211770-74211788 chr2:74211731-74211744 chr2:74211773-74211786
48	CTCF	chr2:74211380-74211530	HepG2	liver:	n/a	n/a
49	CTCF	chr2:74212660-74212810	GM12864	blood:	n/a	n/a
50	CTCF	chr2:74211540-74211690	GM12874	blood:	n/a	chr2:74211602-74211620 chr2:74211605-74211618

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74211440-74211490	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:74212049-74212099	A549	lung:	n/a
3	chr2:74213762-74213812	SK-N-SH	brain:	n/a
4	chr2:74212049-74212099	CMK	blood:	n/a
5	chr2:74211845-74211895	ECC-1	luminal epithelium:	n/a
6	chr2:74211440-74211490	GM19239	blood:	n/a
7	chr2:74213762-74213812	HCPEpiC	choroid plexus:	n/a
8	chr2:74211845-74211895	AG09319	gingival:	n/a
9	chr2:74212049-74212099	GM06990	blood:	n/a
10	chr2:74211845-74211895	HIPEpiC	eye:	n/a
11	chr2:74212731-74212781	HMEC	breast:	n/a
12	chr2:74212782-74212832	SK-N-SH	brain:	n/a
13	chr2:74212782-74212832	HUVEC	blood vessel:	n/a
14	chr2:74211440-74211490	MCF-7	breast:	n/a
15	chr2:74211440-74211490	BJ	skin:	n/a
16	chr2:74212782-74212832	HL-60	blood:	n/a
17	chr2:74213762-74213812	T-47D	breast:	n/a
18	chr2:74212731-74212781	Hela-S3	cervix:	n/a
19	chr2:74211845-74211895	GM06990	blood:	n/a
20	chr2:74212731-74212781	HCT-116	colon:	n/a
21	chr2:74212782-74212832	AG04449	skin:	fetal
22	chr2:74211440-74211490	HRE	kidney:	n/a
23	chr2:74212782-74212832	HEEpiC	esophagus:	n/a
24	chr2:74211440-74211490	RPTEC	kidney:	n/a
25	chr2:74211845-74211895	SK-N-MC	brain:	n/a
26	chr2:74211845-74211895	BE2_C	brain:	n/a
27	chr2:74213762-74213812	A549	lung:	n/a
28	chr2:74213762-74213812	HUVEC	blood vessel:	n/a
29	chr2:74211845-74211895	NH-A	brain:	n/a
30	chr2:74211845-74211895	H1-hESC	embryonic stem cell:	embryo
31	chr2:74212049-74212099	HRCEpiC	kidney:	n/a
32	chr2:74211845-74211895	SAEC	small airway:	n/a
33	chr2:74213762-74213812	GM12892	blood:	n/a
34	chr2:74211440-74211490	AG09309	skin:	n/a
35	chr2:74211440-74211490	MCF10A-Er-Src	breast:	n/a
36	chr2:74211440-74211490	HEK293	kidney:	embryo
37	chr2:74211845-74211895	Hepatocyte	liver:	n/a
38	chr2:74212782-74212832	T-47D	breast:	n/a
39	chr2:74212049-74212099	HCPEpiC	choroid plexus:	n/a
40	chr2:74212731-74212781	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:74212049-74212099	HCT-116	colon:	n/a
42	chr2:74212782-74212832	SK-N-SH_RA	brain:	n/a
43	chr2:74213762-74213812	Caco-2	colon:	n/a
44	chr2:74212782-74212832	IMR90	lung:	fetal
45	chr2:74213762-74213812	NHDF-neo	bronchial:	n/a
46	chr2:74213762-74213812	AG04450	lung:	fetal
47	chr2:74211440-74211490	SK-N-SH	brain:	n/a
48	chr2:74212731-74212781	HepG2	liver:	n/a
49	chr2:74212782-74212832	PANC-1	pancreas:	n/a
50	chr2:74211845-74211895	MCF-7	breast:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74210903..74212994-chr2:74431667..74434283,2	MCF-7	breast:
2	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
3	chr2:74209964..74211607-chr2:74281437..74283507,2	K562	blood:
4	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
5	chr11:133905199..133907855-chr2:74210970..74213610,2	MCF-7	breast:
6	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
7	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:
8	chr2:74211059..74212577-chr2:74271171..74274101,2	MCF-7	breast:
9	chr2:74006477..74008068-chr2:74209603..74212198,2	MCF-7	breast:
10	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
11	chr14:75746098..75746964-chr2:74211481..74212299,2	Hela-S3	cervix:
12	chr2:74210880..74212548-chr2:74372314..74375193,2	K562	blood:
13	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
14	chr2:74209551..74211458-chr6:30582757..30584822,2	MCF-7	breast:
15	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
16	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
17	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
18	chr2:74209535..74211828-chr2:97552282..97555129,2	MCF-7	breast:
19	chr2:74171083..74173536-chr2:74209389..74211761,2	K562	blood:
20	chr2:74210080..74211906-chr2:74412687..74415534,2	MCF-7	breast:
21	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
22	chr2:74209447..74211523-chr2:74377686..74379947,2	MCF-7	breast:
23	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
24	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
25	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
26	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
27	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
28	chr2:74212585..74213417-chr20:30194830..30195536,2	Hela-S3	cervix:
29	chr2:74209217..74211366-chr2:74294188..74296510,3	MCF-7	breast:
30	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
31	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
32	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
33	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
34	chr2:74103145..74104933-chr2:74212158..74213816,2	K562	blood:
35	chr2:70312056..70313801-chr2:74209899..74211567,2	MCF-7	breast:
36	chr2:74175475..74176994-chr2:74209729..74212006,2	MCF-7	breast:
37	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
38	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
39	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
40	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
41	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74211337-74211790	NONHSAT071648
2	lnc-TET3-2	chr2:74212259-74212284	XLOC_001531
3	lnc-TET3-2	chr2:74213107-74213470	XLOC_001531

No data

Variant related genes	Relation type
DGUOK-AS1	TF binding region
ENSG00000255989	TF binding region
ENSG00000235499	TF binding region
DGUOK-AS1	CpG island
ENSG00000255989	CpG island
ENSG00000235499	CpG island
ENSG00000271536	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000225439	chromatin interactions
ENSG00000115289	chromatin interactions
ENSG00000254648	chromatin interactions
ENSG00000201876	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000257800	chromatin interactions
ENSG00000163170	chromatin interactions
ENSG00000144048	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000124356	chromatin interactions
ENSG00000204241	chromatin interactions
ENSG00000187605	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000114956	chromatin interactions
UHRF1	miRNA target sites
UHRF1BP1	miRNA target sites

Extended variants
information (count: 65 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560106326	chr2:74211318-74211319	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs368565829	chr2:74211364-74211365	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
3	rs542454047	chr2:74211460-74211461	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
4	rs560527708	chr2:74211481-74211482	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
5	rs531392531	chr2:74211483-74211484	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
6	rs57937756	chr2:74211530-74211531	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
7	rs113394392	chr2:74211593-74211594	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
8	rs11683567	chr2:74211597-74211598	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
9	rs34745609	chr2:74211746-74211747	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
10	rs186998393	chr2:74211774-74211775	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
11	rs532707912	chr2:74211788-74211789	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
12	rs34467263	chr2:74211800-74211801	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs34984242	chr2:74211838-74211839	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs35303540	chr2:74211841-74211842	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs35686339	chr2:74211860-74211861	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs34400965	chr2:74211873-74211874	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs548101937	chr2:74211889-74211890	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs13008035	chr2:74211902-74211903	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs113438817	chr2:74211952-74211953	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs566217278	chr2:74212048-74212049	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs536900947	chr2:74212128-74212129	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs34604399	chr2:74212147-74212148	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs112413178	chr2:74212267-74212268	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
24	rs569826289	chr2:74212494-74212495	Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs191976078	chr2:74212529-74212530	Weak transcription Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs566645813	chr2:74212704-74212705	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs537102489	chr2:74212743-74212744	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs558550757	chr2:74212761-74212762	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs146710425	chr2:74212771-74212772	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs369406639	chr2:74212772-74212773	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs576793703	chr2:74212785-74212786	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs534694299	chr2:74212788-74212789	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs554063873	chr2:74212834-74212835	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs12988832	chr2:74212837-74212838	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs542816054	chr2:74212866-74212867	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs561017916	chr2:74212871-74212872	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs576225157	chr2:74212885-74212886	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs532151872	chr2:74212887-74212888	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs543506984	chr2:74212913-74212914	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs550739554	chr2:74212935-74212936	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs370568540	chr2:74212941-74212942	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs113013175	chr2:74212957-74212958	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs532158844	chr2:74212961-74212962	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs74991786	chr2:74213010-74213011	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs199709700	chr2:74213013-74213014	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs367959548	chr2:74213023-74213024	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs529978361	chr2:74213030-74213031	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs113426308	chr2:74213062-74213063	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs530293144	chr2:74213073-74213074	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs548380397	chr2:74213082-74213083	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74206800-74211400	Flanking Active TSS	NHEK	skin
2	chr2:74209000-74211400	Weak transcription	Ovary	ovary
3	chr2:74209200-74211400	Weak transcription	Aorta	Aorta
4	chr2:74210200-74211600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:74210400-74211600	Flanking Active TSS	HMEC	breast
6	chr2:74210400-74211800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr2:74210400-74211800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:74210600-74211400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:74210600-74211400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr2:74210600-74211400	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:74210600-74211600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:74210600-74211600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:74210600-74211600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:74210600-74211600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:74210600-74211600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:74210600-74211600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:74210600-74211600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:74210600-74211600	Enhancers	Fetal Brain Male	brain
19	chr2:74210600-74211600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
20	chr2:74210600-74211800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:74210600-74211800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr2:74210600-74211800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr2:74210600-74211800	Active TSS	Fetal Kidney	kidney
24	chr2:74210600-74211800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:74210600-74212000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:74210600-74213000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:74210800-74211400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:74210800-74211400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:74210800-74211400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr2:74210800-74211400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr2:74210800-74211400	Bivalent/Poised TSS	Thymus	Thymus
32	chr2:74210800-74211400	Enhancers	Spleen	Spleen
33	chr2:74210800-74211600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:74210800-74211600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:74210800-74211600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:74210800-74211600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr2:74210800-74211600	Flanking Active TSS	Placenta	Placenta
38	chr2:74210800-74211600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr2:74210800-74211600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:74210800-74211600	Flanking Active TSS	A549	lung
41	chr2:74210800-74211600	Flanking Active TSS	Hela-S3	cervix
42	chr2:74210800-74211600	Flanking Active TSS	K562	blood
43	chr2:74210800-74211800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr2:74210800-74211800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr2:74210800-74211800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:74210800-74211800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr2:74210800-74211800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:74210800-74211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr2:74210800-74211800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:74210800-74211800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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