Variant report

Variant	esv3408557
Chromosome Location	chr2:36581673-36584221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:438)
CpG islands
(count:611)
Chromatin interactive
region (count:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:36582582-36583062	HepG2	liver:	n/a	n/a
2	BACH1	chr2:36582877-36583263	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:36583875-36584225	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:36584056-36585850	A549	lung:	n/a	n/a
5	BCL3	chr2:36583995-36585806	A549	lung:	n/a	n/a
6	BHLHE40	chr2:36583466-36583788	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:36583441-36583816	GM12878	blood:	n/a	chr2:36583777-36583793
8	BHLHE40	chr2:36583537-36583705	A549	lung:	n/a	n/a
9	BHLHE40	chr2:36584014-36585232	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:36582855-36583006	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr2:36582848-36583045	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:36582485-36582568	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:36583590-36583803	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr2:36582093-36582445	HepG2	liver:	n/a	chr2:36582300-36582313
15	CEBPB	chr2:36582971-36583025	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:36583619-36583779	HepG2	liver:	n/a	n/a
17	CEBPD	chr2:36582334-36583425	HepG2	liver:	n/a	n/a
18	CEBPD	chr2:36582818-36583082	HepG2	liver:	n/a	n/a
19	CHD1	chr2:36581051-36590233	IMR90	lung:	n/a	chr2:36584898-36584908
20	CHD1	chr2:36583532-36583871	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr2:36583076-36583163	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr2:36584209-36584492	HepG2	liver:	n/a	n/a
23	CHD2	chr2:36583417-36583792	HepG2	liver:	n/a	n/a
24	CHD2	chr2:36582386-36583149	HepG2	liver:	n/a	n/a
25	CHD2	chr2:36582155-36585159	Hela-S3	cervix:	n/a	chr2:36584898-36584908
26	CHD2	chr2:36583510-36583706	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr2:36582085-36582946	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr2:36582508-36583691	A549	lung:	n/a	n/a
29	CREB1	chr2:36582690-36583167	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr2:36581986-36585508	HepG2	liver:	n/a	n/a
31	CTBP2	chr2:36582900-36585031	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:36584140-36584290	AG04449	skin:	n/a	n/a
33	CTCF	chr2:36583620-36583770	GM12874	blood:	n/a	n/a
34	CTCF	chr2:36582592-36582655	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:36584140-36584290	HMEC	breast:	n/a	n/a
36	CTCF	chr2:36582932-36583013	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:36582626-36582687	Spleen_OC	spleen:	n/a	n/a
38	E2F4	chr2:36582736-36583046	MCF10A-Er-Src	breast:	n/a	chr2:36582998-36583007 chr2:36583031-36583041 chr2:36582795-36582804
39	E2F4	chr2:36582363-36582369	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr2:36583392-36583869	H1-hESC	embryonic stem cell:	n/a	chr2:36583417-36583427
41	E2F6	chr2:36583587-36583734	K562	blood:	n/a	n/a
42	EGR1	chr2:36582597-36583081	ECC-1	luminal epithelium:	n/a	chr2:36582733-36582743 chr2:36582785-36582795 chr2:36582817-36582831 chr2:36582836-36582850
43	EGR1	chr2:36582627-36583076	MCF-7	breast:	n/a	chr2:36582733-36582743 chr2:36582785-36582795 chr2:36582817-36582831 chr2:36582836-36582850
44	EGR1	chr2:36582710-36582931	GM12878	blood:	n/a	chr2:36582733-36582743 chr2:36582785-36582795 chr2:36582817-36582831 chr2:36582836-36582850
45	EGR1	chr2:36582437-36583100	HCT-116	colon:	n/a	chr2:36582733-36582743 chr2:36582785-36582795 chr2:36582817-36582831 chr2:36582836-36582850
46	ELK1	chr2:36582927-36583022	Hela-S3	cervix:	n/a	n/a
47	EP300	chr2:36582878-36583120	HepG2	liver:	n/a	chr2:36583082-36583098 chr2:36583107-36583116 chr2:36583068-36583077 chr2:36583066-36583075 chr2:36583069-36583085 chr2:36583070-36583086
48	EP300	chr2:36583386-36583584	HepG2	liver:	n/a	chr2:36583418-36583427
49	EP300	chr2:36582590-36582633	HepG2	liver:	n/a	n/a
50	EP300	chr2:36584219-36584405	HepG2	liver:	n/a	chr2:36584248-36584261

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36582467-36582517	HAEpiC	amniotic membrane:	n/a
2	chr2:36582467-36582517	HAEpiC	amniotic membrane:	n/a
3	chr2:36582467-36582517	AG09309	skin:	n/a
4	chr2:36583600-36583650	AoSMC	blood vessel:	n/a
5	chr2:36582144-36582194	AG10803	skin:	n/a
6	chr2:36582931-36582981	AG04449	skin:	fetal
7	chr2:36582931-36582981	BJ	skin:	n/a
8	chr2:36582144-36582194	GM12891	blood:	n/a
9	chr2:36582903-36582953	Jurkat	blood:	n/a
10	chr2:36582398-36582448	IMR90	lung:	fetal
11	chr2:36583600-36583650	PrEC	prostate:	n/a
12	chr2:36583117-36583167	HRCEpiC	kidney:	n/a
13	chr2:36582398-36582448	AoSMC	blood vessel:	n/a
14	chr2:36582038-36582088	Caco-2	colon:	n/a
15	chr2:36582038-36582088	HEEpiC	esophagus:	n/a
16	chr2:36584021-36584071	HL-60	blood:	n/a
17	chr2:36582293-36582343	NHDF-neo	bronchial:	n/a
18	chr2:36583600-36583650	AG04450	lung:	fetal
19	chr2:36582467-36582517	NT2-D1	testis:	n/a
20	chr2:36582038-36582088	HIPEpiC	eye:	n/a
21	chr2:36582931-36582981	Caco-2	colon:	n/a
22	chr2:36582903-36582953	HRCEpiC	kidney:	n/a
23	chr2:36582144-36582194	AG04449	skin:	fetal
24	chr2:36582293-36582343	Jurkat	blood:	n/a
25	chr2:36582398-36582448	GM12891	blood:	n/a
26	chr2:36582467-36582517	HepG2	liver:	n/a
27	chr2:36582293-36582343	RPTEC	kidney:	n/a
28	chr2:36582038-36582088	SKMC	muscle:	n/a
29	chr2:36583117-36583167	ovcar-3	ovarian:	n/a
30	chr2:36583117-36583167	RPTEC	kidney:	n/a
31	chr2:36582931-36582981	H1-hESC	embryonic stem cell:	embryo
32	chr2:36582144-36582194	GM12892	blood:	n/a
33	chr2:36582144-36582194	HRCEpiC	kidney:	n/a
34	chr2:36583117-36583167	HAEpiC	amniotic membrane:	n/a
35	chr2:36584021-36584071	HUVEC	blood vessel:	n/a
36	chr2:36583117-36583167	HEK293	kidney:	embryo
37	chr2:36583117-36583167	ProgFib	skin:	n/a
38	chr2:36582293-36582343	HEK293	kidney:	embryo
39	chr2:36582293-36582343	HUVEC	blood vessel:	n/a
40	chr2:36582144-36582194	Hepatocyte	liver:	n/a
41	chr2:36582903-36582953	HCPEpiC	choroid plexus:	n/a
42	chr2:36582144-36582194	ovcar-3	ovarian:	n/a
43	chr2:36582467-36582517	PFSK-1	brain:	n/a
44	chr2:36582038-36582088	PANC-1	pancreas:	n/a
45	chr2:36582144-36582194	HNPCEpiC	eye:	n/a
46	chr2:36582144-36582194	U87	brain:	n/a
47	chr2:36582903-36582953	K562	blood:	n/a
48	chr2:36582398-36582448	SKMC	muscle:	n/a
49	chr2:36582038-36582088	NHDF-neo	bronchial:	n/a
50	chr2:36582038-36582088	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
2	chr2:36582124..36584781-chr2:36595194..36598033,3	MCF-7	breast:
3	chr2:36579541..36582234-chr2:36891147..36893577,3	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007401.2.1-1	chr2:36581892-36582124	NR_037631
2	lnc-AC007401.2.1-1	chr2:36582231-36582713	NR_037631
3	lnc-AC007401.2.1-1	chr2:36581892-36582257	ENSG00000260025.1
4	lnc-AC007401.2.1-1	chr2:36581895-36582124	NONHSAT070079
5	lnc-AC007401.2.1-1	chr2:36582231-36582636	XLOC_002048
6	lnc-AC007401.2.1-1	chr2:36581908-36582124	XLOC_002048
7	lnc-AC007401.2.1-1	chr2:36582262-36582739	NONHSAT070079
8	lnc-AC007401.2.1-1	chr2:36581478-36582124	NONHSAT070077
9	lnc-AC007401.2.1-1	chr2:36582231-36582763	NONHSAT070077

No data

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000260025	TF binding region
CRIM1	CpG island
ENSG00000260025	CpG island
ENSG00000150938	chromatin interactions
ENSG00000171055	chromatin interactions
RPRD2	miRNA target sites

Extended variants
information (count: 104 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138431514	chr2:36581721-36581722	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs76336160	chr2:36581729-36581730	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs551190975	chr2:36581758-36581759	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs189179799	chr2:36581856-36581857	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs537192130	chr2:36581932-36581933	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs149280614	chr2:36581988-36581989	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs182218671	chr2:36582074-36582075	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs573956602	chr2:36582103-36582104	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs535289655	chr2:36582105-36582106	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs147349815	chr2:36582113-36582114	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs186556494	chr2:36582127-36582128	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs578256397	chr2:36582170-36582171	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs72785154	chr2:36582180-36582181	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs563912951	chr2:36582234-36582235	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs547326567	chr2:36582237-36582238	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs116623237	chr2:36582289-36582290	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs561683457	chr2:36582326-36582327	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs528898664	chr2:36582333-36582334	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs189069844	chr2:36582344-36582345	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs559364678	chr2:36582383-36582384	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs533091546	chr2:36582420-36582421	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs551154065	chr2:36582448-36582449	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs569563777	chr2:36582459-36582460	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs114058609	chr2:36582466-36582467	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs530224433	chr2:36582486-36582487	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs549220729	chr2:36582491-36582492	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs567622157	chr2:36582560-36582561	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs113736665	chr2:36582580-36582581	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs570833115	chr2:36582591-36582592	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs553363883	chr2:36582598-36582599	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs571961086	chr2:36582660-36582661	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs539387412	chr2:36582685-36582686	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs557542239	chr2:36582701-36582702	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs575917814	chr2:36582719-36582720	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs543472071	chr2:36582790-36582791	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs181698387	chr2:36582820-36582821	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573708952	chr2:36582838-36582839	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs540654711	chr2:36582853-36582854	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs558967008	chr2:36582904-36582905	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs533057645	chr2:36582908-36582909	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs544908243	chr2:36582939-36582940	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs563103729	chr2:36582940-36582941	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530638212	chr2:36582958-36582959	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs549186408	chr2:36583119-36583120	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs567636102	chr2:36583120-36583121	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs145029810	chr2:36583140-36583141	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs546675240	chr2:36583172-36583173	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs571671804	chr2:36583184-36583185	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs528109428	chr2:36583185-36583186	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs551155379	chr2:36583187-36583188	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hereditary gingival fibromatosis	19633868	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36579000-36581800	Enhancers	Fetal Heart	heart
2	chr2:36579000-36582000	Enhancers	Stomach Mucosa	stomach
3	chr2:36579200-36582000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:36579600-36582000	Enhancers	Primary B cells from cord blood	blood
5	chr2:36579800-36582400	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:36580400-36581800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:36580400-36582000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:36580400-36582000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:36580600-36581800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:36580800-36582200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:36581000-36582000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:36581000-36582000	Flanking Active TSS	A549	lung
13	chr2:36581000-36582200	Flanking Active TSS	HUVEC	blood vessel
14	chr2:36581200-36582000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:36581200-36582000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:36581200-36582000	Flanking Active TSS	NHDF-Ad	bronchial
17	chr2:36581200-36582200	Flanking Active TSS	HMEC	breast
18	chr2:36581200-36582200	Flanking Active TSS	Osteobl	bone
19	chr2:36581200-36586400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:36581400-36581800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:36581400-36581800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:36581400-36581800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:36581400-36581800	Active TSS	Brain Angular Gyrus	brain
24	chr2:36581400-36581800	Flanking Active TSS	Placenta	Placenta
25	chr2:36581400-36581800	Flanking Active TSS	NHLF	lung
26	chr2:36581400-36582000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:36581400-36582000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:36581400-36582000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr2:36581400-36582000	Enhancers	Left Ventricle	heart
30	chr2:36581400-36582000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:36581400-36582000	Flanking Active TSS	HepG2	liver
32	chr2:36581400-36582000	Flanking Active TSS	NH-A	brain
33	chr2:36581400-36582200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:36581400-36582200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:36581400-36582200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr2:36581400-36582200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:36581400-36582200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
38	chr2:36581400-36582200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:36581400-36585800	Active TSS	Fetal Brain Female	brain
40	chr2:36581400-36586400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:36581600-36581800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr2:36581600-36581800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:36581600-36581800	Flanking Active TSS	Aorta	Aorta
44	chr2:36581600-36581800	Active TSS	Brain Substantia Nigra	brain
45	chr2:36581600-36581800	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:36581600-36581800	Flanking Active TSS	Fetal Brain Male	brain
47	chr2:36581600-36581800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:36581600-36581800	Bivalent Enhancer	Fetal Lung	lung
49	chr2:36581600-36581800	Enhancers	Ovary	ovary
50	chr2:36581600-36581800	Enhancers	Rectal Mucosa Donor 31	rectum

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