Variant report

Variant	nsv2681
Chromosome Location	chr2:36822990-36848171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:601)
CpG islands
(count:978)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:601 , 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	chr2:36824822-36824984	HepG2	liver:	n/a	n/a
2	ATF1	chr2:36845544-36845891	K562	blood:	n/a	n/a
3	ATF1	chr2:36842472-36842776	K562	blood:	n/a	n/a
4	ATF2	chr2:36824535-36825103	GM12878	blood:	n/a	n/a
5	ATF2	chr2:36824462-36824907	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr2:36845443-36845844	GM12878	blood:	n/a	n/a
7	ATF3	chr2:36845443-36845940	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr2:36845534-36845791	GM12878	blood:	n/a	n/a
9	ATF3	chr2:36845551-36845792	K562	blood:	n/a	n/a
10	ATF3	chr2:36845573-36845814	HepG2	liver:	n/a	n/a
11	BACH1	chr2:36842513-36842737	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:36824686-36825087	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:36824864-36824866	K562	blood:	n/a	n/a
14	BHLHE40	chr2:36825561-36825915	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:36845506-36845923	K562	blood:	n/a	n/a
16	BHLHE40	chr2:36824536-36825072	GM12878	blood:	n/a	chr2:36824929-36824945
17	BHLHE40	chr2:36824397-36825129	K562	blood:	n/a	chr2:36824929-36824945
18	BHLHE40	chr2:36825391-36825804	K562	blood:	n/a	n/a
19	BRCA1	chr2:36842363-36842751	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr2:36824591-36824891	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr2:36824624-36825061	K562	blood:	n/a	n/a
22	CBX3	chr2:36845478-36845951	K562	blood:	n/a	n/a
23	CCNT2	chr2:36824418-36825112	K562	blood:	n/a	chr2:36824972-36824981
24	CEBPB	chr2:36842265-36842601	IMR90	lung:	n/a	chr2:36842403-36842414
25	CEBPB	chr2:36842311-36842600	K562	blood:	n/a	chr2:36842403-36842414
26	CEBPB	chr2:36845651-36845961	K562	blood:	n/a	n/a
27	CEBPB	chr2:36842220-36842811	Hela-S3	cervix:	n/a	chr2:36842403-36842414
28	CEBPB	chr2:36842185-36842628	MCF-7	breast:	n/a	chr2:36842403-36842414
29	CEBPB	chr2:36836742-36836967	Hela-S3	cervix:	n/a	chr2:36836837-36836848
30	CEBPB	chr2:36836728-36836879	A549	lung:	n/a	chr2:36836837-36836848
31	CEBPB	chr2:36842216-36842593	H1-hESC	embryonic stem cell:	n/a	chr2:36842403-36842414
32	CEBPB	chr2:36844010-36844516	MCF-7	breast:	n/a	n/a
33	CEBPB	chr2:36842292-36842522	HepG2	liver:	n/a	chr2:36842403-36842414
34	CEBPB	chr2:36844129-36844406	MCF-7	breast:	n/a	n/a
35	CEBPB	chr2:36844061-36844449	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr2:36824654-36825002	HepG2	liver:	n/a	n/a
37	CHD1	chr2:36824930-36825046	H1-hESC	embryonic stem cell:	n/a	chr2:36824965-36824975
38	CHD1	chr2:36824527-36825074	GM12878	blood:	n/a	chr2:36824965-36824975
39	CHD2	chr2:36845542-36845860	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr2:36824626-36825459	Hela-S3	cervix:	n/a	chr2:36824965-36824975
41	CHD2	chr2:36824647-36825089	K562	blood:	n/a	chr2:36824965-36824975
42	CHD2	chr2:36824420-36825054	GM12878	blood:	n/a	chr2:36824965-36824975
43	CHD2	chr2:36845527-36845808	K562	blood:	n/a	n/a
44	CHD2	chr2:36824592-36825011	H1-hESC	embryonic stem cell:	n/a	chr2:36824965-36824975
45	CHD2	chr2:36824895-36825086	HepG2	liver:	n/a	chr2:36824965-36824975
46	CHD2	chr2:36824581-36824614	HepG2	liver:	n/a	n/a
47	CREB1	chr2:36824716-36825094	A549	lung:	n/a	n/a
48	CREB1	chr2:36842493-36842764	K562	blood:	n/a	n/a
49	CREB1	chr2:36842367-36842864	K562	blood:	n/a	n/a
50	CTBP2	chr2:36824480-36825102	H1-hESC	embryonic stem cell:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36825379-36825429	HepG2	liver:	n/a
2	chr2:36825355-36825405	SKMC	muscle:	n/a
3	chr2:36825379-36825429	HepG2	liver:	n/a
4	chr2:36825355-36825405	SKMC	muscle:	n/a
5	chr2:36825379-36825429	BE2_C	brain:	n/a
6	chr2:36825379-36825429	HCM	heart:	n/a
7	chr2:36825355-36825405	HCM	heart:	n/a
8	chr2:36824275-36824325	HRE	kidney:	n/a
9	chr2:36825704-36825754	NH-A	brain:	n/a
10	chr2:36825355-36825405	NHDF-neo	bronchial:	n/a
11	chr2:36845361-36845411	HRPEpiC	eye:	n/a
12	chr2:36825204-36825254	A549	lung:	n/a
13	chr2:36825379-36825429	AG09319	gingival:	n/a
14	chr2:36825150-36825200	K562	blood:	n/a
15	chr2:36825704-36825754	AG04449	skin:	fetal
16	chr2:36825704-36825754	BE2_C	brain:	n/a
17	chr2:36825150-36825200	MCF10A-Er-Src	breast:	n/a
18	chr2:36825379-36825429	ProgFib	skin:	n/a
19	chr2:36825888-36825938	AG09309	skin:	n/a
20	chr2:36825888-36825938	MCF10A-Er-Src	breast:	n/a
21	chr2:36825273-36825323	LNCaP	prostate:	n/a
22	chr2:36825204-36825254	T-47D	breast:	n/a
23	chr2:36845361-36845411	LNCaP	prostate:	n/a
24	chr2:36824663-36824713	NB4	blood:	n/a
25	chr2:36825704-36825754	NB4	blood:	n/a
26	chr2:36825379-36825429	ECC-1	luminal epithelium:	n/a
27	chr2:36824338-36824388	CMK	blood:	n/a
28	chr2:36825888-36825938	Hela-S3	cervix:	n/a
29	chr2:36825704-36825754	SKMC	muscle:	n/a
30	chr2:36825379-36825429	GM12891	blood:	n/a
31	chr2:36824338-36824388	HCM	heart:	n/a
32	chr2:36825355-36825405	Hepatocyte	liver:	n/a
33	chr2:36824663-36824713	HCPEpiC	choroid plexus:	n/a
34	chr2:36825448-36825498	SAEC	small airway:	n/a
35	chr2:36825379-36825429	NHBE	bronchial:	n/a
36	chr2:36825150-36825200	HUVEC	blood vessel:	n/a
37	chr2:36824275-36824325	HCT-116	colon:	n/a
38	chr2:36824663-36824713	Caco-2	colon:	n/a
39	chr2:36824663-36824713	HEK293	kidney:	embryo
40	chr2:36825355-36825405	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:36825704-36825754	NT2-D1	testis:	n/a
42	chr2:36825448-36825498	GM12891	blood:	n/a
43	chr2:36825204-36825254	HCM	heart:	n/a
44	chr2:36842633-36842683	HEEpiC	esophagus:	n/a
45	chr2:36825888-36825938	HIPEpiC	eye:	n/a
46	chr2:36824259-36824309	GM12892	blood:	n/a
47	chr2:36825355-36825405	SK-N-SH	brain:	n/a
48	chr2:36845361-36845411	PFSK-1	brain:	n/a
49	chr2:36825736-36825786	NH-A	brain:	n/a
50	chr2:36842633-36842683	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:36807436..36809716-chr2:36825542..36828230,2	K562	blood:
2	chr19:18668542..18669248-chr2:36824810..36825370,2	Hela-S3	cervix:
3	chr2:36826854..36828860-chr2:36842420..36843944,2	MCF-7	breast:
4	chr2:36823117..36826552-chr2:36831110..36836877,7	MCF-7	breast:
5	chr2:36824682..36827222-chr2:36846290..36849196,2	K562	blood:
6	chr18:12492408..12492934-chr2:36835622..36836122,2	Hela-S3	cervix:
7	chr2:36823771..36826668-chr2:36844095..36847746,6	MCF-7	breast:
8	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:
9	chr2:36845094..36847827-chr2:36854780..36857434,2	K562	blood:
10	chr2:36773274..36774998-chr2:36822690..36824944,2	MCF-7	breast:
11	chr2:36823490..36825133-chr2:36832447..36835155,2	K562	blood:
12	chr2:36832279..36835040-chr2:36835404..36839522,4	K562	blood:
13	chr2:36825393..36826238-chr3:170587410..170588332,2	HCT-116	colon:
14	chr2:36795603..36797557-chr2:36823655..36825213,2	MCF-7	breast:
15	chr2:36826854..36828860-chr2:36842420..36843944,2	MCF-7	breast:
16	chr2:36822925..36827633-chr2:36831305..36836913,8	MCF-7	breast:
17	chr2:36832118..36833779-chr2:36837070..36839522,2	K562	blood:
18	chr2:36846931..36849384-chr2:36851133..36853576,2	K562	blood:
19	chr2:36823490..36825133-chr2:36832447..36835155,2	K562	blood:
20	chr2:36824822..36825365-chr3:170587432..170588313,2	HCT-116	colon:
21	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
22	chr2:36824440..36826372-chr2:36842411..36844588,3	MCF-7	breast:
23	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
24	chr2:36824869..36825813-chr7:25164272..25164970,2	Hela-S3	cervix:
25	chr15:40659687..40660521-chr2:36824351..36825100,2	Hela-S3	cervix:
26	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:
27	chr2:36703233..36705219-chr2:36822844..36824378,2	K562	blood:
28	chr2:36832279..36835040-chr2:36835404..36839522,4	K562	blood:
29	chr2:36806495..36808233-chr2:36823601..36825272,2	K562	blood:
30	chr2:36832118..36833779-chr2:36837070..36839522,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256845	TF binding region
FEZ2	TF binding region
ENSG00000256845	CpG island
FEZ2	CpG island
ENSG00000172115	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000150938	chromatin interactions
ENSG00000171055	chromatin interactions
ENSG00000256845	chromatin interactions
ENSG00000163584	chromatin interactions

Extended variants
information (count: 946 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558107123	chr2:36822994-36822995	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs116951747	chr2:36822999-36823000	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs9941555	chr2:36823001-36823002	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs149191810	chr2:36823007-36823008	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs143364905	chr2:36823022-36823023	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs191722196	chr2:36823033-36823034	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563840807	chr2:36823054-36823055	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs148347669	chr2:36823077-36823078	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183494755	chr2:36823084-36823085	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571638453	chr2:36823092-36823093	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141220335	chr2:36823095-36823096	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563642058	chr2:36823172-36823173	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531068170	chr2:36823177-36823178	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs111365991	chr2:36823184-36823185	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs137892666	chr2:36823195-36823196	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530881204	chr2:36823222-36823223	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs59244078	chr2:36823223-36823224	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3770785	chr2:36823236-36823237	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs547192440	chr2:36823239-36823240	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs142311467	chr2:36823242-36823243	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532964186	chr2:36823257-36823258	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs186443067	chr2:36823281-36823282	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs191293270	chr2:36823326-36823327	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537387431	chr2:36823371-36823372	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs182187821	chr2:36823415-36823416	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs372404029	chr2:36823416-36823417	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs567380789	chr2:36823422-36823423	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs534781254	chr2:36823423-36823424	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs146031629	chr2:36823439-36823440	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs139664972	chr2:36823450-36823451	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs545010535	chr2:36823482-36823483	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs377158817	chr2:36823498-36823499	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs556982904	chr2:36823525-36823526	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs575212634	chr2:36823529-36823530	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs186789691	chr2:36823553-36823554	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs369557275	chr2:36823562-36823563	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs577953955	chr2:36823568-36823569	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs528702651	chr2:36823583-36823584	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs149321635	chr2:36823612-36823613	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs115055090	chr2:36823631-36823632	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs367904784	chr2:36823646-36823647	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs551495715	chr2:36823652-36823653	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs563298545	chr2:36823677-36823678	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs531052386	chr2:36823701-36823702	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs546347865	chr2:36823723-36823724	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs530500966	chr2:36823724-36823725	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549020945	chr2:36823755-36823756	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs144566340	chr2:36823762-36823763	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs534519330	chr2:36823788-36823789	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs148449606	chr2:36823791-36823792	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
5	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
7	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
9	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
10	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:36810600-36823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
14	chr2:36811800-36823600	Weak transcription	Pancreas	Pancrea
15	chr2:36812000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:36812200-36823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:36812200-36823200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:36812200-36823400	Weak transcription	Lung	lung
19	chr2:36812200-36824000	Weak transcription	HSMMtube	muscle
20	chr2:36813400-36823600	Weak transcription	Hela-S3	cervix
21	chr2:36814600-36823000	Weak transcription	Left Ventricle	heart
22	chr2:36814600-36823400	Weak transcription	Fetal Stomach	stomach
23	chr2:36815600-36823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:36816800-36823200	Weak transcription	Right Atrium	heart
25	chr2:36816800-36823200	Weak transcription	NHLF	lung
26	chr2:36816800-36823600	Weak transcription	Fetal Heart	heart
27	chr2:36817200-36823200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:36817400-36823000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:36817800-36823400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:36818000-36823000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:36818000-36823000	Weak transcription	Dnd41	blood
32	chr2:36818000-36823200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:36818000-36823200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:36818000-36823400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:36818000-36823600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:36818000-36823800	Weak transcription	Fetal Thymus	thymus
37	chr2:36818000-36824200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:36818200-36823000	Weak transcription	Osteobl	bone
39	chr2:36818200-36823400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:36818200-36823400	Weak transcription	HMEC	breast
41	chr2:36818200-36823800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:36818200-36824000	Weak transcription	K562	blood
43	chr2:36818400-36823400	Weak transcription	NH-A	brain
44	chr2:36819000-36823200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:36820400-36824200	Enhancers	Liver	Liver
46	chr2:36820600-36823200	Enhancers	Adipose Nuclei	Adipose
47	chr2:36821000-36823600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:36821800-36823000	Strong transcription	A549	lung
49	chr2:36821800-36823200	Enhancers	Psoas Muscle	Psoas
50	chr2:36821800-36824400	Enhancers	Sigmoid Colon	Sigmoid Colon

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