Variant report

Variant	esv3404972
Chromosome Location	chr2:115918007-115920855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:115919625-115919821	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:115920718-115920836	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:115918502-115919163	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr2:115918127-115918595	HepG2	liver:	n/a	n/a
5	BHLHE40	chr2:115918816-115918957	HepG2	liver:	n/a	n/a
6	BRCA1	chr2:115918934-115918958	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:115920841-115921055	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr2:115919786-115919843	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr2:115918233-115918316	HepG2	liver:	n/a	n/a
10	CREB1	chr2:115918528-115919004	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr2:115919515-115919904	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr2:115918780-115918930	WERI-Rb-1	eye:	n/a	n/a
13	E2F6	chr2:115918091-115919655	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919616-115919626 chr2:115919401-115919410
14	E2F6	chr2:115917958-115919412	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919401-115919410
15	E2F6	chr2:115919413-115919946	H1-hESC	embryonic stem cell:	n/a	chr2:115919694-115919703 chr2:115919616-115919626
16	EGR1	chr2:115918552-115919037	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918992
17	GTF2F1	chr2:115918351-115918894	H1-hESC	embryonic stem cell:	n/a	n/a
18	HDAC2	chr2:115919631-115919848	H1-hESC	embryonic stem cell:	n/a	n/a
19	HMGN3	chr2:115919530-115919701	K562	blood:	n/a	n/a
20	HNF4A	chr2:115918203-115918471	HepG2	liver:	n/a	chr2:115918310-115918318 chr2:115918303-115918317 chr2:115918302-115918317 chr2:115918311-115918323 chr2:115918311-115918323 chr2:115918302-115918317
21	JUND	chr2:115918778-115919073	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115919056-115919065 chr2:115918954-115918968
22	JUND	chr2:115918652-115919066	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115919056-115919065 chr2:115918954-115918968
23	JUND	chr2:115918634-115919032	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115918954-115918968
24	JUND	chr2:115919407-115919517	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr2:115920484-115920944	H1-hESC	embryonic stem cell:	n/a	chr2:115920726-115920735
26	MAX	chr2:115918095-115919702	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
27	MAX	chr2:115918139-115918807	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
28	MAX	chr2:115920495-115920948	H1-hESC	embryonic stem cell:	n/a	chr2:115920726-115920735
29	MAX	chr2:115918018-115918788	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
30	MAX	chr2:115918174-115918627	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
31	MAX	chr2:115918126-115919369	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
32	MAX	chr2:115918129-115918445	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
33	MAX	chr2:115919381-115920134	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr2:115919544-115919615	HepG2	liver:	n/a	n/a
35	MXI1	chr2:115920619-115920829	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr2:115918168-115918359	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
37	POLR2A	chr2:115919990-115920412	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr2:115918876-115919374	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr2:115919439-115919716	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:115919564-115920444	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr2:115919125-115919939	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr2:115919089-115919294	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:115920504-115920984	H1-neurons	neurons:	n/a	n/a
44	RAD21	chr2:115919598-115919622	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr2:115918629-115919031	H1-hESC	embryonic stem cell:	n/a	chr2:115918976-115918990
46	RCOR1	chr2:115918238-115918431	HepG2	liver:	n/a	n/a
47	REST	chr2:115920741-115920864	HepG2	liver:	n/a	chr2:115920795-115920804
48	REST	chr2:115920590-115921005	H1-hESC	embryonic stem cell:	n/a	chr2:115920795-115920804
49	REST	chr2:115920694-115921020	ECC-1	luminal epithelium:	n/a	chr2:115920795-115920804
50	REST	chr2:115920494-115921080	HL-60	blood:	n/a	chr2:115920521-115920534 chr2:115920521-115920534 chr2:115920795-115920804

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:115919785-115919835	HRCEpiC	kidney:	n/a
2	chr2:115919785-115919835	HRCEpiC	kidney:	n/a
3	chr2:115919006-115919056	HIPEpiC	eye:	n/a
4	chr2:115920612-115920662	Caco-2	colon:	n/a
5	chr2:115919785-115919835	AG09309	skin:	n/a
6	chr2:115919009-115919059	HAEpiC	amniotic membrane:	n/a
7	chr2:115919006-115919056	MCF10A-Er-Src	breast:	n/a
8	chr2:115920612-115920662	PrEC	prostate:	n/a
9	chr2:115920221-115920271	K562	blood:	n/a
10	chr2:115920825-115920875	SKMC	muscle:	n/a
11	chr2:115920825-115920875	NB4	blood:	n/a
12	chr2:115918745-115918795	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:115920764-115920814	SKMC	muscle:	n/a
14	chr2:115919009-115919059	AG04450	lung:	fetal
15	chr2:115920825-115920875	AG10803	skin:	n/a
16	chr2:115919829-115919879	RPTEC	kidney:	n/a
17	chr2:115919785-115919835	HCPEpiC	choroid plexus:	n/a
18	chr2:115920612-115920662	HIPEpiC	eye:	n/a
19	chr2:115919006-115919056	PrEC	prostate:	n/a
20	chr2:115920764-115920814	NB4	blood:	n/a
21	chr2:115920221-115920271	AG10803	skin:	n/a
22	chr2:115919366-115919416	AG10803	skin:	n/a
23	chr2:115919829-115919879	NHDF-neo	bronchial:	n/a
24	chr2:115920825-115920875	NHDF-neo	bronchial:	n/a
25	chr2:115920825-115920875	AG09319	gingival:	n/a
26	chr2:115918745-115918795	AG04450	lung:	fetal
27	chr2:115919785-115919835	HEK293	kidney:	embryo
28	chr2:115918745-115918795	H1-hESC	embryonic stem cell:	embryo
29	chr2:115920764-115920814	MCF10A-Er-Src	breast:	n/a
30	chr2:115920221-115920271	HRPEpiC	eye:	n/a
31	chr2:115919366-115919416	AG04450	lung:	fetal
32	chr2:115919006-115919056	HCPEpiC	choroid plexus:	n/a
33	chr2:115920474-115920524	AG09309	skin:	n/a
34	chr2:115919006-115919056	AG09319	gingival:	n/a
35	chr2:115919829-115919879	HL-60	blood:	n/a
36	chr2:115920825-115920875	PANC-1	pancreas:	n/a
37	chr2:115920825-115920875	SAEC	small airway:	n/a
38	chr2:115919785-115919835	A549	lung:	n/a
39	chr2:115919950-115920000	HRPEpiC	eye:	n/a
40	chr2:115920221-115920271	HCT-116	colon:	n/a
41	chr2:115920221-115920271	NB4	blood:	n/a
42	chr2:115919366-115919416	ovcar-3	ovarian:	n/a
43	chr2:115919006-115919056	HMEC	breast:	n/a
44	chr2:115919366-115919416	BE2_C	brain:	n/a
45	chr2:115919006-115919056	AG04449	skin:	fetal
46	chr2:115919006-115919056	PANC-1	pancreas:	n/a
47	chr2:115919009-115919059	GM19239	blood:	n/a
48	chr2:115919009-115919059	CMK	blood:	n/a
49	chr2:115920764-115920814	BJ	skin:	n/a
50	chr2:115920764-115920814	BE2_C	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-9	chr2:115918681-115918920	ENSG00000235026.1
2	lnc-SLC35F5-9	chr2:115918681-115918958	NONHSAT073871
3	lnc-SLC35F5-9	chr2:115918681-115918768	ENSG00000235026.1
4	lnc-SLC35F5-9	chr2:115918681-115918958	NONHSAT073869

Variant related genes	Relation type
DPP10	TF binding region
DPP10-AS1	TF binding region
DPP10	CpG island
DPP10-AS1	CpG island

Extended variants
information (count: 114 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530383112	chr2:115918044-115918045	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs180783335	chr2:115918109-115918110	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112891123	chr2:115918110-115918111	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112645525	chr2:115918114-115918115	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs137940976	chr2:115918201-115918202	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35809114	chr2:115918205-115918206	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76069628	chr2:115918328-115918329	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117622427	chr2:115918363-115918364	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185633747	chr2:115918376-115918377	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548441694	chr2:115918405-115918406	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533123909	chr2:115918412-115918413	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568424187	chr2:115918415-115918416	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536999897	chr2:115918441-115918442	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs551381282	chr2:115918445-115918446	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557347366	chr2:115918457-115918458	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143513314	chr2:115918503-115918504	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191172575	chr2:115918506-115918507	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372214955	chr2:115918516-115918517	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549402157	chr2:115918563-115918564	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368418710	chr2:115918571-115918572	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183698802	chr2:115918581-115918582	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535653262	chr2:115918598-115918599	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555651140	chr2:115918639-115918640	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575538387	chr2:115918665-115918666	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200168221	chr2:115918674-115918675	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543853863	chr2:115918694-115918695	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs564142508	chr2:115918709-115918710	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs577642420	chr2:115918739-115918740	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs539914724	chr2:115918835-115918836	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs186574338	chr2:115918855-115918856	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs6729043	chr2:115918857-115918858	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548376779	chr2:115918860-115918861	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs567610792	chr2:115918884-115918885	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs6719261	chr2:115918933-115918934	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs531279994	chr2:115918935-115918936	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs553479386	chr2:115918940-115918941	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs113069166	chr2:115918943-115918944	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs6719380	chr2:115919028-115919029	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183281044	chr2:115919038-115919039	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
40	rs566971062	chr2:115919054-115919055	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
41	rs564269508	chr2:115919058-115919059	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs187797059	chr2:115919061-115919062	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs191551670	chr2:115919062-115919063	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs6758811	chr2:115919063-115919064	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs575432199	chr2:115919064-115919065	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs538167793	chr2:115919072-115919073	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs557787307	chr2:115919091-115919092	Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs141265455	chr2:115919270-115919271	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs13313771	chr2:115919301-115919302	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs559770253	chr2:115919343-115919344	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Autism	22495311	CNVD
Autism	18522746	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115917800-115918200	Flanking Active TSS	Fetal Intestine Large	intestine
2	chr2:115918000-115918200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
3	chr2:115918000-115918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:115918000-115918200	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:115918000-115918200	Active TSS	Duodenum Mucosa	Duodenum
6	chr2:115918000-115918200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr2:115918000-115918200	Bivalent Enhancer	Fetal Kidney	kidney
8	chr2:115918000-115918200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr2:115918000-115918400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr2:115918000-115918400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
11	chr2:115918000-115918600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:115918000-115918600	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr2:115918000-115918600	Flanking Active TSS	Pancreas	Pancrea
14	chr2:115918000-115919000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:115918000-115919800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:115918000-115920000	Active TSS	Brain Angular Gyrus	brain
17	chr2:115918000-115920000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:115918000-115920600	Active TSS	Rectal Smooth Muscle	rectum
19	chr2:115918000-115920800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:115918000-115920800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:115918000-115921200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr2:115918200-115918400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
23	chr2:115918200-115918400	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:115918200-115918400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr2:115918200-115918400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:115918200-115918400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:115918200-115918400	Bivalent Enhancer	Brain Hippocampus Middle	brain
28	chr2:115918200-115918400	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr2:115918200-115918400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
30	chr2:115918200-115918600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:115918200-115918600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr2:115918200-115918600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
37	chr2:115918200-115918600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr2:115918200-115918800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr2:115918200-115918800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr2:115918200-115918800	Bivalent Enhancer	Fetal Thymus	thymus
41	chr2:115918200-115918800	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr2:115918200-115919800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:115918200-115919800	Active TSS	Colonic Mucosa	Colon
44	chr2:115918200-115920000	Active TSS	Fetal Brain Female	brain
45	chr2:115918200-115920200	Active TSS	Gastric	stomach
46	chr2:115918200-115920400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr2:115918200-115920400	Active TSS	Brain Anterior Caudate	brain
48	chr2:115918200-115920400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:115918200-115920800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:115918200-115921200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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