Variant report

Variant	nsv873634
Chromosome Location	chr2:10275814-10337034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1503)
CpG islands
(count:732)
Chromatin interactive
region (count:102)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:10275901-10276721	K562	blood:	n/a	n/a
2	BACH1	chr2:10295926-10296066	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:10276120-10276554	K562	blood:	n/a	n/a
4	BCL3	chr2:10304004-10304282	GM12878	blood:	n/a	n/a
5	BCL3	chr2:10301589-10301903	GM12878	blood:	n/a	n/a
6	BCL3	chr2:10279103-10279848	A549	lung:	n/a	chr2:10279481-10279494
7	BCL3	chr2:10295787-10296033	GM12878	blood:	n/a	n/a
8	BCL3	chr2:10278551-10279088	A549	lung:	n/a	n/a
9	BCL3	chr2:10303971-10304341	GM12878	blood:	n/a	n/a
10	BCL3	chr2:10281167-10281643	A549	lung:	n/a	n/a
11	BCL3	chr2:10302272-10302677	GM12878	blood:	n/a	n/a
12	BCL3	chr2:10274283-10278255	A549	lung:	n/a	chr2:10277846-10277855
13	BCL3	chr2:10302244-10302654	GM12878	blood:	n/a	n/a
14	BCL3	chr2:10301526-10301913	GM12878	blood:	n/a	n/a
15	BCL3	chr2:10275375-10278222	A549	lung:	n/a	chr2:10277846-10277855
16	BCLAF1	chr2:10274940-10275844	K562	blood:	n/a	n/a
17	BCLAF1	chr2:10275895-10276626	K562	blood:	n/a	n/a
18	BHLHE40	chr2:10276477-10276681	K562	blood:	n/a	n/a
19	BRCA1	chr2:10308895-10308938	Hela-S3	cervix:	n/a	n/a
20	CCNT2	chr2:10302362-10302387	K562	blood:	n/a	n/a
21	CCNT2	chr2:10276377-10276698	K562	blood:	n/a	n/a
22	CEBPB	chr2:10293144-10293279	A549	lung:	n/a	n/a
23	CEBPB	chr2:10293222-10293287	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:10275951-10276771	K562	blood:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
25	CEBPB	chr2:10275934-10276679	K562	blood:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
26	CEBPB	chr2:10276194-10276763	HepG2	liver:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
27	CEBPB	chr2:10279175-10279354	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr2:10312763-10312862	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr2:10279100-10279280	K562	blood:	n/a	n/a
30	CEBPB	chr2:10276052-10276606	A549	lung:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
31	CEBPB	chr2:10279151-10279343	A549	lung:	n/a	n/a
32	CEBPB	chr2:10275954-10276533	Hela-S3	cervix:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
33	CEBPB	chr2:10276215-10276505	A549	lung:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
34	CEBPB	chr2:10315760-10315783	K562	blood:	n/a	n/a
35	CEBPB	chr2:10276194-10276485	HepG2	liver:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
36	CEBPB	chr2:10276126-10276548	MCF-7	breast:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
37	CEBPB	chr2:10276158-10276400	IMR90	lung:	n/a	chr2:10276325-10276336 chr2:10276324-10276335
38	CEBPB	chr2:10279056-10279297	K562	blood:	n/a	n/a
39	CEBPB	chr2:10310366-10310700	IMR90	lung:	n/a	n/a
40	CEBPD	chr2:10276303-10276714	HepG2	liver:	n/a	n/a
41	CEBPD	chr2:10275882-10276807	K562	blood:	n/a	n/a
42	CHD2	chr2:10275588-10276302	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr2:10276029-10276577	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr2:10277367-10277703	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr2:10277718-10277733	K562	blood:	n/a	n/a
46	CHD2	chr2:10275050-10277506	K562	blood:	n/a	n/a
47	CTCF	chr2:10328480-10328630	HRE	kidney:	n/a	n/a
48	CTCF	chr2:10302020-10302170	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr2:10303536-10303586	ProgFib	skin:	n/a	n/a
50	CTCF	chr2:10282563-10282782	LNCaP	prostate:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10284324-10284374	MCF10A-Er-Src	breast:	n/a
2	chr2:10302454-10302504	MCF10A-Er-Src	breast:	n/a
3	chr2:10284324-10284374	SK-N-MC	brain:	n/a
4	chr2:10310255-10310305	ProgFib	skin:	n/a
5	chr2:10281168-10281218	CMK	blood:	n/a
6	chr2:10281159-10281209	GM12878	blood:	n/a
7	chr2:10334372-10334422	CMK	blood:	n/a
8	chr2:10302454-10302504	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:10281345-10281395	HRPEpiC	eye:	n/a
10	chr2:10302391-10302441	T-47D	breast:	n/a
11	chr2:10284324-10284374	RPTEC	kidney:	n/a
12	chr2:10302391-10302441	AG10803	skin:	n/a
13	chr2:10281330-10281380	PrEC	prostate:	n/a
14	chr2:10302391-10302441	MCF10A-Er-Src	breast:	n/a
15	chr2:10281345-10281395	NH-A	brain:	n/a
16	chr2:10284324-10284374	GM12878	blood:	n/a
17	chr2:10302454-10302504	GM12878	blood:	n/a
18	chr2:10334372-10334422	HEEpiC	esophagus:	n/a
19	chr2:10334372-10334422	HCM	heart:	n/a
20	chr2:10302454-10302504	AoSMC	blood vessel:	n/a
21	chr2:10302462-10302512	PrEC	prostate:	n/a
22	chr2:10281526-10281576	AG09309	skin:	n/a
23	chr2:10334372-10334422	SK-N-SH_RA	brain:	n/a
24	chr2:10281345-10281395	SK-N-SH	brain:	n/a
25	chr2:10334372-10334422	NH-A	brain:	n/a
26	chr2:10284324-10284374	SKMC	muscle:	n/a
27	chr2:10281330-10281380	GM19239	blood:	n/a
28	chr2:10302391-10302441	IMR90	lung:	fetal
29	chr2:10281258-10281308	NH-A	brain:	n/a
30	chr2:10281258-10281308	ovcar-3	ovarian:	n/a
31	chr2:10281258-10281308	IMR90	lung:	fetal
32	chr2:10281258-10281308	ProgFib	skin:	n/a
33	chr2:10334372-10334422	SKMC	muscle:	n/a
34	chr2:10302462-10302512	SK-N-SH_RA	brain:	n/a
35	chr2:10310255-10310305	IMR90	lung:	fetal
36	chr2:10281526-10281576	HMEC	breast:	n/a
37	chr2:10281159-10281209	BJ	skin:	n/a
38	chr2:10302391-10302441	HEEpiC	esophagus:	n/a
39	chr2:10281258-10281308	AoSMC	blood vessel:	n/a
40	chr2:10302391-10302441	HNPCEpiC	eye:	n/a
41	chr2:10302462-10302512	ECC-1	luminal epithelium:	n/a
42	chr2:10302454-10302504	IMR90	lung:	fetal
43	chr2:10302391-10302441	Caco-2	colon:	n/a
44	chr2:10281159-10281209	K562	blood:	n/a
45	chr2:10281330-10281380	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:10281159-10281209	T-47D	breast:	n/a
47	chr2:10302462-10302512	GM19239	blood:	n/a
48	chr2:10302391-10302441	AG04450	lung:	fetal
49	chr2:10281345-10281395	Hepatocyte	liver:	n/a
50	chr2:10284324-10284374	HRPEpiC	eye:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:10328063..10328629-chr2:10575089..10575716,3	K562	blood:
2	chr2:10299318..10302918-chr2:10305124..10307341,4	K562	blood:
3	chr2:10303041..10305346-chr2:10310124..10311738,2	MCF-7	breast:
4	chr2:10296675..10298215-chr2:10573676..10576663,2	K562	blood:
5	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
6	chr2:10320031..10321774-chr2:10324619..10326821,2	K562	blood:
7	chr2:10306251..10307952-chr2:10310022..10311795,2	K562	blood:
8	chr2:10267037..10269007-chr2:10310464..10312919,2	K562	blood:
9	chr2:10260565..10262183-chr2:10281401..10283341,2	MCF-7	breast:
10	chr2:10274325..10277239-chr2:10417227..10419368,3	K562	blood:
11	chr2:10297096..10298028-chr2:10575136..10575688,2	K562	blood:
12	chr2:10333609..10335207-chr2:10346879..10348820,2	K562	blood:
13	chr2:10305391..10309576-chr2:10311864..10315375,4	K562	blood:
14	chr2:10276382..10278828-chr2:10333001..10334634,2	MCF-7	breast:
15	chr2:10212853..10217073-chr2:10274987..10278512,3	K562	blood:
16	chr2:10280234..10284189-chr2:10285116..10288798,5	MCF-7	breast:
17	chr2:10325813..10328227-chr2:10329027..10331851,2	K562	blood:
18	chr2:10282453..10284259-chr2:10442297..10444052,2	MCF-7	breast:
19	chr2:10282168..10283119-chr2:10328456..10329013,3	MCF-7	breast:
20	chr2:10335310..10337198-chr2:10565374..10566915,2	K562	blood:
21	chr2:10311566..10313814-chr2:10315451..10318799,4	K562	blood:
22	chr2:10159180..10160819-chr2:10275177..10277719,2	K562	blood:
23	chr2:10275826..10278054-chr2:10562875..10565231,2	K562	blood:
24	chr2:10326687..10328532-chr2:10350704..10352850,2	K562	blood:
25	chr2:10272153..10274468-chr2:10296810..10299007,2	MCF-7	breast:
26	chr2:10277705..10280483-chr2:10573985..10576380,2	MCF-7	breast:
27	chr2:10302897..10304868-chr2:10308947..10311458,3	K562	blood:
28	chr2:10262593..10265067-chr2:10276073..10279475,5	MCF-7	breast:
29	chr2:10289232..10291569-chr2:10295558..10297132,2	K562	blood:
30	chr2:10328066..10328890-chr2:10443478..10444354,3	MCF-7	breast:
31	chr2:10277738..10279513-chr2:10379719..10382264,2	K562	blood:
32	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
33	chr2:10274850..10277272-chr2:10576045..10578779,2	MCF-7	breast:
34	chr2:10241471..10243524-chr2:10274993..10276602,2	K562	blood:
35	chr2:10278603..10281199-chr2:10574177..10576676,2	K562	blood:
36	chr2:10284792..10287057-chr2:10444307..10446479,2	K562	blood:
37	chr2:10271666..10276241-chr2:10279595..10283078,5	MCF-7	breast:
38	chr2:10275050..10276633-chr2:10298060..10300888,2	K562	blood:
39	chr2:10289232..10291569-chr2:10295558..10297132,2	K562	blood:
40	chr2:10219531..10221826-chr2:10274622..10276552,2	K562	blood:
41	chr2:10311566..10313814-chr2:10315451..10318799,4	K562	blood:
42	chr2:10275050..10276633-chr2:10298060..10300888,2	K562	blood:
43	chr2:10280945..10282469-chr2:10297115..10299071,2	MCF-7	breast:
44	chr2:10273185..10278025-chr2:10572544..10579398,11	K562	blood:
45	chr2:10274887..10276601-chr2:10582184..10584969,2	K562	blood:
46	chr2:10260909..10263628-chr2:10332391..10334618,3	K562	blood:
47	chr2:10276382..10278828-chr2:10333001..10334634,2	MCF-7	breast:
48	chr2:10303041..10305346-chr2:10310124..10311738,2	MCF-7	breast:
49	chr2:10306251..10307952-chr2:10309148..10311795,2	K562	blood:
50	chr2:10328419..10328932-chr2:10445333..10446204,3	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4261	chr2:10332750-10332765	MIMAT0016890

No data

Variant related genes	Relation type
C2orf48	TF binding region
ENSG00000206647	TF binding region
MIR4261	TF binding region
C2orf48	CpG island
ENSG00000206647	CpG island
MIR4261	CpG island
ENSG00000115756	chromatin interactions
ENSG00000257135	chromatin interactions
ENSG00000272524	chromatin interactions
ENSG00000163009	chromatin interactions
ENSG00000205795	chromatin interactions
ENSG00000206633	chromatin interactions
ENSG00000115758	chromatin interactions
ENSG00000206647	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000212558	chromatin interactions

Extended variants
information (count: 2598 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2598 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs717886	chr2:10275814-10275815	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578017052	chr2:10275835-10275836	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147547069	chr2:10275888-10275889	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560513564	chr2:10275913-10275914	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs182147213	chr2:10275926-10275927	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542918913	chr2:10275962-10275963	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140292094	chr2:10276004-10276005	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372429449	chr2:10276016-10276017	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs367944826	chr2:10276054-10276055	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs117402452	chr2:10276056-10276057	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs545181927	chr2:10276083-10276084	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs115855195	chr2:10276117-10276118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62129885	chr2:10276124-10276125	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs527352383	chr2:10276127-10276128	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs370058437	chr2:10276150-10276151	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs188039509	chr2:10276170-10276171	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs397870700	chr2:10276202-10276203	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs192461272	chr2:10276206-10276207	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs375549434	chr2:10276213-10276214	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs144230328	chr2:10276221-10276222	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs114711591	chr2:10276223-10276224	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs569149367	chr2:10276235-10276236	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs114485185	chr2:10276239-10276240	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs558286338	chr2:10276248-10276249	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs571674506	chr2:10276273-10276274	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534281358	chr2:10276306-10276307	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs151165137	chr2:10276308-10276309	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs6744820	chr2:10276311-10276312	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574077459	chr2:10276330-10276331	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542982334	chr2:10276333-10276334	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs556505978	chr2:10276366-10276367	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576356807	chr2:10276384-10276385	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs115185103	chr2:10276428-10276429	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs565056506	chr2:10276436-10276437	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs574863928	chr2:10276445-10276446	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs185482238	chr2:10276448-10276449	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs541098942	chr2:10276479-10276480	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs560769878	chr2:10276497-10276498	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs189959064	chr2:10276608-10276609	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs369551287	chr2:10276635-10276636	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs368620552	chr2:10276639-10276640	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs115792998	chr2:10276642-10276643	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374982551	chr2:10276672-10276673	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs569213588	chr2:10276741-10276742	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs140159885	chr2:10276758-10276759	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs116242603	chr2:10276769-10276770	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs571788791	chr2:10276774-10276775	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs534076444	chr2:10276785-10276786	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs554229344	chr2:10276811-10276812	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113538909	chr2:10276913-10276914	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1058 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
2	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
3	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
5	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
6	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:10267400-10277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10269000-10276000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:10269000-10277000	Weak transcription	HSMM	muscle
11	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:10269800-10285200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:10272200-10276000	Weak transcription	NHDF-Ad	bronchial
15	chr2:10272200-10284000	Weak transcription	GM12878-XiMat	blood
16	chr2:10272400-10276200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:10272400-10276200	Weak transcription	NH-A	brain
18	chr2:10272400-10276200	Weak transcription	Osteobl	bone
19	chr2:10272400-10277200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:10272400-10277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:10272600-10289800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:10273000-10276200	Weak transcription	Gastric	stomach
23	chr2:10273200-10276200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:10273200-10277400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:10273400-10277400	Strong transcription	Fetal Thymus	thymus
26	chr2:10273400-10285000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:10273600-10276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:10273600-10276000	Weak transcription	NHLF	lung
29	chr2:10273600-10276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:10273600-10277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:10273600-10282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:10273600-10283400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:10273800-10276000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:10273800-10276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10273800-10276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:10273800-10277200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:10273800-10277800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:10273800-10281600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:10273800-10281800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:10273800-10282000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:10273800-10282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:10273800-10282600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:10273800-10283200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:10273800-10283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:10273800-10283400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:10273800-10289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:10274000-10276000	Weak transcription	Fetal Intestine Small	intestine
49	chr2:10274000-10276000	Weak transcription	Fetal Stomach	stomach
50	chr2:10274000-10276200	Weak transcription	Primary monocytes fromperipheralblood	blood

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