Variant report

Variant	esv16693
Chromosome Location	chr12:56211376-56212111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:489)
CpG islands
(count:673)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:56211329-56211841	K562	blood:	n/a	n/a
2	ARID3A	chr12:56211554-56211765	HepG2	liver:	n/a	n/a
3	ATF1	chr12:56211028-56211917	K562	blood:	n/a	n/a
4	ATF2	chr12:56210858-56212211	GM12878	blood:	n/a	chr12:56211629-56211640
5	ATF2	chr12:56210936-56211444	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr12:56210898-56211997	GM12878	blood:	n/a	chr12:56211629-56211640
7	ATF2	chr12:56211000-56211896	H1-hESC	embryonic stem cell:	n/a	chr12:56211629-56211640
8	BCL3	chr12:56210901-56212764	A549	lung:	n/a	chr12:56211640-56211649 chr12:56211511-56211524
9	BCL3	chr12:56210926-56212872	A549	lung:	n/a	chr12:56211640-56211649 chr12:56211511-56211524
10	BCLAF1	chr12:56211246-56212029	GM12878	blood:	n/a	chr12:56211640-56211649 chr12:56211511-56211524
11	BHLHE40	chr12:56211251-56211899	K562	blood:	n/a	n/a
12	BRCA1	chr12:56211119-56212234	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr12:56211043-56212012	K562	blood:	n/a	n/a
14	CCNT2	chr12:56211082-56211884	K562	blood:	n/a	n/a
15	CEBPB	chr12:56210994-56211806	IMR90	lung:	n/a	n/a
16	CEBPB	chr12:56211019-56211781	K562	blood:	n/a	n/a
17	CEBPB	chr12:56210995-56211836	HepG2	liver:	n/a	n/a
18	CEBPB	chr12:56210969-56211823	K562	blood:	n/a	n/a
19	CEBPB	chr12:56211030-56211812	A549	lung:	n/a	n/a
20	CEBPB	chr12:56210884-56212061	MCF-7	breast:	n/a	n/a
21	CEBPB	chr12:56210887-56211898	Hela-S3	cervix:	n/a	n/a
22	CEBPD	chr12:56211316-56212012	HepG2	liver:	n/a	n/a
23	CEBPZ	chr12:56211509-56211947	HepG2	liver:	n/a	n/a
24	CHD1	chr12:56210934-56211591	H1-hESC	embryonic stem cell:	n/a	chr12:56211327-56211337
25	CHD1	chr12:56211842-56212530	GM12878	blood:	n/a	n/a
26	CHD2	chr12:56211195-56212089	H1-hESC	embryonic stem cell:	n/a	chr12:56211327-56211337
27	CHD2	chr12:56211142-56212118	GM12878	blood:	n/a	chr12:56211327-56211337
28	CHD2	chr12:56211125-56212306	Hela-S3	cervix:	n/a	chr12:56211327-56211337
29	CHD2	chr12:56211103-56212023	HepG2	liver:	n/a	chr12:56211327-56211337
30	CHD2	chr12:56211246-56212053	K562	blood:	n/a	chr12:56211327-56211337
31	CREB1	chr12:56210912-56212080	HepG2	liver:	n/a	n/a
32	CREB1	chr12:56211376-56212008	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr12:56211266-56212052	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr12:56210840-56212164	HepG2	liver:	n/a	n/a
35	CREB1	chr12:56211239-56212140	A549	lung:	n/a	n/a
36	CREB1	chr12:56210968-56211983	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr12:56210913-56212153	GM12878	blood:	n/a	n/a
38	CREB1	chr12:56211409-56211887	A549	lung:	n/a	n/a
39	CTCF	chr12:56211960-56212110	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr12:56211380-56211530	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr12:56211612-56211783	GM12878	blood:	n/a	n/a
42	E2F4	chr12:56211319-56211959	K562	blood:	n/a	chr12:56211854-56211864 chr12:56211536-56211547 chr12:56211854-56211869
43	E2F4	chr12:56211287-56211748	Hela-S3	cervix:	n/a	chr12:56211536-56211547
44	E2F4	chr12:56211139-56211950	MCF10A-Er-Src	breast:	n/a	chr12:56211854-56211864 chr12:56211536-56211547 chr12:56211854-56211869
45	E2F4	chr12:56211260-56211834	GM12878	blood:	n/a	chr12:56211536-56211547
46	E2F6	chr12:56211447-56211622	K562	blood:	n/a	n/a
47	EBF1	chr12:56211316-56211924	GM12878	blood:	n/a	n/a
48	EGR1	chr12:56211336-56211734	K562	blood:	n/a	chr12:56211517-56211527
49	ELF1	chr12:56211191-56212250	MCF-7	breast:	n/a	chr12:56211517-56211529 chr12:56211826-56211839
50	ELF1	chr12:56211388-56212272	K562	blood:	n/a	chr12:56211517-56211529 chr12:56211826-56211839

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56211383-56211433	HNPCEpiC	eye:	n/a
2	chr12:56211383-56211433	NH-A	brain:	n/a
3	chr12:56211383-56211433	HNPCEpiC	eye:	n/a
4	chr12:56211383-56211433	NH-A	brain:	n/a
5	chr12:56211383-56211433	SAEC	small airway:	n/a
6	chr12:56211718-56211768	HCM	heart:	n/a
7	chr12:56211520-56211570	H1-hESC	embryonic stem cell:	embryo
8	chr12:56211714-56211764	HEEpiC	esophagus:	n/a
9	chr12:56211718-56211768	HRPEpiC	eye:	n/a
10	chr12:56211824-56211874	GM12892	blood:	n/a
11	chr12:56211520-56211570	NHDF-neo	bronchial:	n/a
12	chr12:56211698-56211748	Caco-2	colon:	n/a
13	chr12:56211383-56211433	AG09319	gingival:	n/a
14	chr12:56211781-56211831	HEEpiC	esophagus:	n/a
15	chr12:56211718-56211768	NB4	blood:	n/a
16	chr12:56211596-56211646	Hela-S3	cervix:	n/a
17	chr12:56211576-56211626	SK-N-SH	brain:	n/a
18	chr12:56211698-56211748	HCT-116	colon:	n/a
19	chr12:56211718-56211768	Hela-S3	cervix:	n/a
20	chr12:56211698-56211748	HNPCEpiC	eye:	n/a
21	chr12:56211576-56211626	U87	brain:	n/a
22	chr12:56211698-56211748	A549	lung:	n/a
23	chr12:56211543-56211593	GM06990	blood:	n/a
24	chr12:56211781-56211831	SK-N-SH_RA	brain:	n/a
25	chr12:56211714-56211764	PFSK-1	brain:	n/a
26	chr12:56211781-56211831	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:56211718-56211768	T-47D	breast:	n/a
28	chr12:56211824-56211874	HMEC	breast:	n/a
29	chr12:56211781-56211831	ovcar-3	ovarian:	n/a
30	chr12:56211596-56211646	BJ	skin:	n/a
31	chr12:56211543-56211593	HCPEpiC	choroid plexus:	n/a
32	chr12:56211444-56211494	T-47D	breast:	n/a
33	chr12:56211520-56211570	BE2_C	brain:	n/a
34	chr12:56211383-56211433	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:56211718-56211768	AG09309	skin:	n/a
36	chr12:56211714-56211764	H1-hESC	embryonic stem cell:	embryo
37	chr12:56211714-56211764	BJ	skin:	n/a
38	chr12:56211698-56211748	HCF	heart:	n/a
39	chr12:56211543-56211593	MCF10A-Er-Src	breast:	n/a
40	chr12:56211714-56211764	Jurkat	blood:	n/a
41	chr12:56211576-56211626	SK-N-MC	brain:	n/a
42	chr12:56211698-56211748	CMK	blood:	n/a
43	chr12:56211520-56211570	AG04449	skin:	fetal
44	chr12:56211714-56211764	PANC-1	pancreas:	n/a
45	chr12:56211543-56211593	HL-60	blood:	n/a
46	chr12:56211543-56211593	NB4	blood:	n/a
47	chr12:56211543-56211593	ProgFib	skin:	n/a
48	chr12:56211781-56211831	HRPEpiC	eye:	n/a
49	chr12:56211383-56211433	U87	brain:	n/a
50	chr12:56211383-56211433	GM19239	blood:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56209321..56212347-chr12:56235221..56238369,3	K562	blood:
2	chr12:56121599..56124065-chr12:56209598..56212420,4	MCF-7	breast:
3	chr12:56211192..56211817-chr14:20922676..20923180,2	Hela-S3	cervix:
4	chr12:56209486..56213209-chr12:56366653..56370251,5	MCF-7	breast:
5	chr12:56211151..56211748-chr9:123604856..123605782,2	Hela-S3	cervix:
6	chr12:56209991..56213836-chr12:56388557..56392258,6	MCF-7	breast:
7	chr12:56210505..56211389-chr12:56423439..56424151,2	K562	blood:
8	chr12:56209963..56212805-chr12:56473917..56475602,2	MCF-7	breast:
9	chr12:56210044..56216553-chr12:56364276..56371676,13	MCF-7	breast:
10	chr12:56211484..56212212-chr3:73159952..73160592,2	NB4	blood:
11	chr12:56209755..56212447-chr12:56551879..56553739,2	MCF-7	breast:
12	chr12:56210260..56213184-chr12:56348200..56352160,4	MCF-7	breast:
13	chr12:56211319..56212123-chr2:88315287..88316122,2	Hela-S3	cervix:
14	chr12:56211662..56213593-chr12:56320133..56321834,2	K562	blood:
15	chr12:56208204..56214844-chr12:56359426..56363484,9	MCF-7	breast:
16	chr12:56210581..56212423-chr12:56323860..56326781,2	K562	blood:
17	chr12:56210928..56213016-chr12:57081918..57083884,2	K562	blood:
18	chr12:56210974..56211707-chr17:7387520..7388138,2	Hela-S3	cervix:
19	chr12:56122056..56124298-chr12:56209901..56211592,3	MCF-7	breast:
20	chr12:56108323..56110419-chr12:56210123..56212582,2	MCF-7	breast:
21	chr12:56208546..56216914-chr12:56318326..56328671,24	MCF-7	breast:
22	chr12:56135540..56139368-chr12:56208041..56213329,11	MCF-7	breast:
23	chr12:56211327..56213257-chr12:56331810..56333930,2	K562	blood:
24	chr12:56211271..56211916-chr9:136214529..136215250,2	Hela-S3	cervix:
25	chr12:56210232..56212783-chr4:146019358..146021941,2	MCF-7	breast:
26	chr12:56122035..56125892-chr12:56210581..56213887,4	K562	blood:
27	chr1:205781522..205782463-chr12:56211416..56212143,2	Hela-S3	cervix:
28	chr12:56136952..56138818-chr12:56210059..56212920,2	MCF-7	breast:
29	chr12:56208117..56217611-chr12:56318345..56328982,45	MCF-7	breast:
30	chr12:56211216..56211748-chr2:101618127..101618681,2	Hela-S3	cervix:
31	chr12:56135741..56138597-chr12:56211072..56214599,4	K562	blood:
32	chr12:56208394..56211844-chr12:56510539..56512389,3	MCF-7	breast:
33	chr12:56210626..56213378-chr12:56473835..56475955,2	MCF-7	breast:
34	chr12:56211633..56216017-chr12:56399885..56403410,4	MCF-7	breast:
35	chr12:56211453..56212433-chr16:30346609..30347165,2	Hela-S3	cervix:
36	chr12:56209766..56212313-chr12:56351329..56354004,2	MCF-7	breast:
37	chr12:56210386..56214682-chr12:56319005..56323153,8	K562	blood:
38	chr12:56136481..56142183-chr12:56210043..56213312,6	K562	blood:
39	chr12:56211126..56211988-chr2:85804606..85805115,2	Hela-S3	cervix:
40	chr12:56211091..56211902-chr15:65588152..65588807,2	Hela-S3	cervix:
41	chr12:56211687..56216264-chr12:56332406..56336008,6	MCF-7	breast:
42	chr12:56209786..56211523-chr12:56320983..56323005,2	K562	blood:
43	chr12:56210407..56211916-chr12:56266892..56269258,2	MCF-7	breast:
44	chr12:56210455..56212790-chr12:56435066..56437044,2	K562	blood:
45	chr12:56210239..56212423-chr12:56323809..56326781,2	K562	blood:

No data

Variant related genes	Relation type
ORMDL2	TF binding region
SARNP	TF binding region
ORMDL2	CpG island
SARNP	CpG island
ENSG00000258554	chromatin interactions
ENSG00000226752	chromatin interactions
ENSG00000164163	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000207339	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000135424	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000123411	chromatin interactions
ENSG00000258311	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000164162	chromatin interactions
ENSG00000258056	chromatin interactions
ENSG00000148297	chromatin interactions
ENSG00000183604	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000111540	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000135404	chromatin interactions
ENSG00000139531	chromatin interactions
ENSG00000133065	chromatin interactions
ENSG00000135414	chromatin interactions
ENSG00000135441	chromatin interactions
ENSG00000118640	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000123374	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000092094	chromatin interactions
ENSG00000185664	chromatin interactions
ENSG00000095261	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000123342	chromatin interactions
ENSG00000199568	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539871746	chr12:56211382-56211383	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
2	rs375152243	chr12:56211406-56211407	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
3	rs112624887	chr12:56211409-56211410	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
4	rs368088020	chr12:56211411-56211412	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
5	rs568784347	chr12:56211437-56211438	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
6	rs539265542	chr12:56211462-56211463	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
7	rs557490033	chr12:56211472-56211473	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
8	rs150649661	chr12:56211478-56211479	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
9	rs74091417	chr12:56211488-56211489	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
10	rs375677738	chr12:56211495-56211496	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
11	rs368837317	chr12:56211497-56211498	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
12	rs372156516	chr12:56211498-56211499	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
13	rs375452277	chr12:56211529-56211530	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
14	rs144691338	chr12:56211557-56211558	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
15	rs541120842	chr12:56211561-56211562	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
16	rs573568257	chr12:56211580-56211581	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
17	rs148682381	chr12:56211597-56211598	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
18	rs115115669	chr12:56211615-56211616	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
19	rs578240912	chr12:56211619-56211620	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
20	rs144502484	chr12:56211627-56211628	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
21	rs560619074	chr12:56211637-56211638	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
22	rs3759101	chr12:56211641-56211642	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543097960	chr12:56211652-56211653	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
24	rs561159077	chr12:56211694-56211695	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
25	rs192012158	chr12:56211701-56211702	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
26	rs531753714	chr12:56211747-56211748	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
27	rs556337843	chr12:56211748-56211749	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
28	rs549732494	chr12:56211784-56211785	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
29	rs562452137	chr12:56211791-56211792	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
30	rs148812437	chr12:56211816-56211817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
31	rs376368188	chr12:56211844-56211845	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
32	rs549385786	chr12:56211846-56211847	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
33	rs551211514	chr12:56211853-56211854	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
34	rs566653742	chr12:56211869-56211870	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
35	rs533685983	chr12:56211878-56211879	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
36	rs145258320	chr12:56211929-56211930	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
37	rs569299016	chr12:56211936-56211937	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
38	rs549042923	chr12:56211952-56211953	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
39	rs183488627	chr12:56211997-56211998	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs188540741	chr12:56212017-56212018	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs537585830	chr12:56212026-56212027	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
42	rs556151506	chr12:56212080-56212081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
43	rs538258075	chr12:56212088-56212089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
44	rs147856956	chr12:56212096-56212097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
45	rs370753410	chr12:56212107-56212108	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56209400-56212200	Active TSS	Fetal Brain Female	brain
2	chr12:56209400-56212400	Active TSS	NHLF	lung
3	chr12:56209800-56212200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56209800-56212200	Active TSS	Fetal Thymus	thymus
5	chr12:56209800-56212600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:56209800-56212600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:56209800-56212800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:56209800-56213000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:56210000-56212200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56210000-56212200	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr12:56210000-56212200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:56210000-56212200	Active TSS	A549	lung
13	chr12:56210000-56212200	Active TSS	GM12878-XiMat	blood
14	chr12:56210000-56212400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:56210000-56212400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:56210000-56212400	Active TSS	K562	blood
17	chr12:56210000-56212600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:56210000-56212600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:56210000-56212600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:56210000-56212600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:56210000-56212600	Active TSS	NHEK	skin
22	chr12:56210000-56212800	Active TSS	HMEC	breast
23	chr12:56210000-56212800	Active TSS	HSMM	muscle
24	chr12:56210200-56211600	Active TSS	Right Atrium	heart
25	chr12:56210200-56212200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:56210200-56212200	Active TSS	Fetal Muscle Leg	muscle
27	chr12:56210200-56212400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:56210200-56212400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:56210200-56212400	Active TSS	Fetal Intestine Large	intestine
30	chr12:56210200-56212400	Active TSS	Ovary	ovary
31	chr12:56210200-56212600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:56210200-56212600	Active TSS	Aorta	Aorta
33	chr12:56210200-56212600	Active TSS	HSMMtube	muscle
34	chr12:56210200-56212800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:56210200-56212800	Active TSS	Right Ventricle	heart
36	chr12:56210400-56212200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:56210400-56212200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:56210400-56212200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:56210400-56212200	Active TSS	Brain Angular Gyrus	brain
40	chr12:56210400-56212200	Active TSS	Brain Anterior Caudate	brain
41	chr12:56210400-56212200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:56210400-56212200	Active TSS	Colon Smooth Muscle	Colon
43	chr12:56210400-56212200	Active TSS	Fetal Kidney	kidney
44	chr12:56210400-56212200	Active TSS	Fetal Stomach	stomach
45	chr12:56210400-56212200	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:56210400-56212200	Active TSS	HUVEC	blood vessel
47	chr12:56210400-56212200	Active TSS	NH-A	brain
48	chr12:56210400-56212400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:56210400-56212400	Active TSS	Fetal Intestine Small	intestine
50	chr12:56210400-56212400	Active TSS	Pancreatic Islets	Pancreatic Islet

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