Variant report

Variant	nsv583034
Chromosome Location	chr2:127821207-127828394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:853)
CpG islands
(count:306)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:127822615-127822618	K562	blood:	n/a	n/a
2	ATF2	chr2:127825494-127825920	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:127825499-127825993	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr2:127825607-127825875	K562	blood:	n/a	n/a
5	ATF3	chr2:127822206-127822801	K562	blood:	n/a	n/a
6	ATF3	chr2:127822254-127822814	A549	lung:	n/a	n/a
7	ATF3	chr2:127822130-127822684	K562	blood:	n/a	n/a
8	ATF3	chr2:127825591-127825922	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:127822214-127822973	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:127822234-127822731	K562	blood:	n/a	n/a
11	BACH1	chr2:127825651-127825951	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr2:127822263-127822708	GM12878	blood:	n/a	chr2:127822516-127822527 chr2:127822517-127822527
13	BCL3	chr2:127822265-127822701	K562	blood:	n/a	n/a
14	BCL3	chr2:127821940-127822838	A549	lung:	n/a	chr2:127822050-127822059
15	BCLAF1	chr2:127822259-127822834	K562	blood:	n/a	n/a
16	BCLAF1	chr2:127822262-127822771	K562	blood:	n/a	n/a
17	BCLAF1	chr2:127825630-127825900	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:127822359-127822805	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:127825347-127825940	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:127825542-127825899	A549	lung:	n/a	n/a
21	BHLHE40	chr2:127822252-127822850	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:127825293-127825973	K562	blood:	n/a	n/a
23	BHLHE40	chr2:127823468-127823585	K562	blood:	n/a	n/a
24	BHLHE40	chr2:127822373-127822818	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:127822136-127823109	K562	blood:	n/a	n/a
26	BHLHE40	chr2:127825385-127825984	HepG2	liver:	n/a	n/a
27	BRCA1	chr2:127822361-127822759	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr2:127825637-127825851	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr2:127822261-127822889	K562	blood:	n/a	n/a
30	CBX3	chr2:127822157-127823071	K562	blood:	n/a	n/a
31	CBX3	chr2:127825343-127825988	K562	blood:	n/a	n/a
32	CCNT2	chr2:127821910-127822792	K562	blood:	n/a	chr2:127822051-127822060 chr2:127822594-127822603
33	CEBPB	chr2:127825652-127825838	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr2:127824593-127824890	IMR90	lung:	n/a	chr2:127824733-127824744
35	CEBPB	chr2:127822290-127822821	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr2:127822395-127822747	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:127822461-127822829	K562	blood:	n/a	n/a
38	CEBPB	chr2:127822288-127822859	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:127822388-127822854	K562	blood:	n/a	n/a
40	CEBPB	chr2:127824651-127824826	HepG2	liver:	n/a	chr2:127824733-127824744
41	CHD1	chr2:127825772-127825830	GM12878	blood:	n/a	n/a
42	CHD2	chr2:127822301-127823159	K562	blood:	n/a	n/a
43	CHD2	chr2:127825523-127825917	GM12878	blood:	n/a	n/a
44	CHD2	chr2:127822265-127823082	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr2:127821838-127821903	K562	blood:	n/a	n/a
46	CHD2	chr2:127825533-127825882	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr2:127827872-127827989	HepG2	liver:	n/a	n/a
48	CHD2	chr2:127825498-127825783	K562	blood:	n/a	n/a
49	CHD2	chr2:127822361-127822634	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr2:127822240-127822688	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127826083-127826133	SK-N-SH_RA	brain:	n/a
2	chr2:127826083-127826133	SK-N-SH_RA	brain:	n/a
3	chr2:127825935-127825985	GM12892	blood:	n/a
4	chr2:127826149-127826199	NB4	blood:	n/a
5	chr2:127826083-127826133	HMEC	breast:	n/a
6	chr2:127826083-127826133	NH-A	brain:	n/a
7	chr2:127825935-127825985	GM19239	blood:	n/a
8	chr2:127825935-127825985	NT2-D1	testis:	n/a
9	chr2:127825935-127825985	HCM	heart:	n/a
10	chr2:127821711-127821761	NHBE	bronchial:	n/a
11	chr2:127822551-127822601	CMK	blood:	n/a
12	chr2:127822551-127822601	AG10803	skin:	n/a
13	chr2:127826149-127826199	H1-hESC	embryonic stem cell:	embryo
14	chr2:127826149-127826199	NT2-D1	testis:	n/a
15	chr2:127821711-127821761	HAEpiC	amniotic membrane:	n/a
16	chr2:127825935-127825985	HMEC	breast:	n/a
17	chr2:127826083-127826133	AoSMC	blood vessel:	n/a
18	chr2:127825935-127825985	HRPEpiC	eye:	n/a
19	chr2:127826149-127826199	SK-N-SH	brain:	n/a
20	chr2:127826149-127826199	MCF-7	breast:	n/a
21	chr2:127826083-127826133	Caco-2	colon:	n/a
22	chr2:127821711-127821761	MCF-7	breast:	n/a
23	chr2:127822551-127822601	Hela-S3	cervix:	n/a
24	chr2:127825935-127825985	HNPCEpiC	eye:	n/a
25	chr2:127826149-127826199	SKMC	muscle:	n/a
26	chr2:127822551-127822601	GM12891	blood:	n/a
27	chr2:127826149-127826199	Caco-2	colon:	n/a
28	chr2:127821711-127821761	HRCEpiC	kidney:	n/a
29	chr2:127825935-127825985	MCF10A-Er-Src	breast:	n/a
30	chr2:127825935-127825985	HepG2	liver:	n/a
31	chr2:127821711-127821761	SKMC	muscle:	n/a
32	chr2:127825935-127825985	T-47D	breast:	n/a
33	chr2:127822551-127822601	AoSMC	blood vessel:	n/a
34	chr2:127826149-127826199	HepG2	liver:	n/a
35	chr2:127821711-127821761	IMR90	lung:	fetal
36	chr2:127821711-127821761	Jurkat	blood:	n/a
37	chr2:127825935-127825985	U87	brain:	n/a
38	chr2:127825935-127825985	Hela-S3	cervix:	n/a
39	chr2:127826083-127826133	ProgFib	skin:	n/a
40	chr2:127822551-127822601	GM19239	blood:	n/a
41	chr2:127822551-127822601	AG09309	skin:	n/a
42	chr2:127821711-127821761	AG04449	skin:	fetal
43	chr2:127822551-127822601	HCPEpiC	choroid plexus:	n/a
44	chr2:127821711-127821761	SK-N-SH	brain:	n/a
45	chr2:127825935-127825985	HRCEpiC	kidney:	n/a
46	chr2:127826083-127826133	AG04450	lung:	fetal
47	chr2:127822551-127822601	AG04449	skin:	fetal
48	chr2:127822551-127822601	ProgFib	skin:	n/a
49	chr2:127821711-127821761	GM12891	blood:	n/a
50	chr2:127826083-127826133	SK-N-SH	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127825353..127826710-chr2:127931463..127932268,5	MCF-7	breast:
2	chr2:127825662..127826505-chr2:127954218..127955183,2	MCF-7	breast:
3	chr2:127812073..127814969-chr2:127823629..127825354,2	K562	blood:
4	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
5	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
6	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:
7	chr2:127822177..127823094-chr7:128694437..128695276,2	Hela-S3	cervix:
8	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
9	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:
10	chr2:127825460..127825985-chr2:127931746..127932330,2	MCF-7	breast:
11	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
12	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
13	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
14	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
15	chr2:127822075..127822831-chr2:128145042..128145699,2	Hela-S3	cervix:
16	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
17	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
18	chr2:127820803..127824621-chr2:127824894..127830047,6	K562	blood:
19	chr2:127825705..127826883-chr2:127897059..127898198,8	MCF-7	breast:
20	chr2:127825712..127826261-chr2:127901784..127902300,2	MCF-7	breast:
21	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
22	chr2:127819816..127822749-chr2:127823381..127826394,3	K562	blood:

No data

Variant related genes	Relation type
BIN1	TF binding region
BIN1	CpG island
ENSG00000136717	chromatin interactions
ENSG00000169967	chromatin interactions
ENSG00000064419	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1137845	chr2:127821207-127821208	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112615417	chr2:127821225-127821226	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373662459	chr2:127821235-127821236	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377250000	chr2:127821243-127821244	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370437960	chr2:127821254-127821255	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566246461	chr2:127821281-127821282	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375067054	chr2:127821292-127821293	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188285398	chr2:127821299-127821300	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375903840	chr2:127821347-127821348	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541715257	chr2:127821348-127821349	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557844950	chr2:127821363-127821364	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577814715	chr2:127821368-127821369	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111396683	chr2:127821378-127821379	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111386764	chr2:127821389-127821390	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564485041	chr2:127821390-127821391	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533398571	chr2:127821397-127821398	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6733368	chr2:127821401-127821402	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563677899	chr2:127821410-127821411	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6716362	chr2:127821411-127821412	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543402455	chr2:127821417-127821418	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548914728	chr2:127821418-127821419	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573864597	chr2:127821422-127821423	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542583558	chr2:127821431-127821432	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368895067	chr2:127821432-127821433	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528237753	chr2:127821438-127821439	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565491858	chr2:127821443-127821444	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2071267	chr2:127821452-127821453	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78935905	chr2:127821453-127821454	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs116251462	chr2:127821459-127821460	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201407108	chr2:127821460-127821461	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569975943	chr2:127821469-127821470	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372824949	chr2:127821472-127821473	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529307900	chr2:127821473-127821474	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549662089	chr2:127821476-127821477	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566383336	chr2:127821477-127821478	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535176915	chr2:127821494-127821495	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376710764	chr2:127821495-127821496	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72481904	chr2:127821499-127821500	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143820618	chr2:127821511-127821512	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199658397	chr2:127821526-127821527	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148179522	chr2:127821532-127821533	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376323215	chr2:127821541-127821542	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573529529	chr2:127821546-127821547	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201238412	chr2:127821571-127821572	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374128965	chr2:127821609-127821610	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370896383	chr2:127821630-127821631	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572805954	chr2:127821631-127821632	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536677450	chr2:127821694-127821695	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564782093	chr2:127821711-127821712	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12467499	chr2:127821740-127821741	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
2	chr2:127805400-127822200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:127805800-127822200	Weak transcription	Small Intestine	intestine
4	chr2:127806400-127821800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:127807400-127821800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:127807800-127821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:127808200-127822000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:127808200-127822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:127808400-127822200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:127808400-127825400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
12	chr2:127810200-127821800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:127810200-127822400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:127810600-127821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:127810600-127821400	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr2:127810800-127822200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:127811000-127822000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:127811200-127822600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:127811600-127821800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:127811600-127822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:127812000-127822200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:127812200-127821800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:127812200-127821800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:127812600-127821400	Strong transcription	Gastric	stomach
25	chr2:127812600-127821800	Weak transcription	Stomach Mucosa	stomach
26	chr2:127813400-127821600	Strong transcription	Fetal Intestine Small	intestine
27	chr2:127813400-127822000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:127813600-127821600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:127813600-127822000	Strong transcription	Fetal Intestine Large	intestine
30	chr2:127813800-127821400	Strong transcription	HSMMtube	muscle
31	chr2:127813800-127821600	Strong transcription	Thymus	Thymus
32	chr2:127814000-127821600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:127814400-127821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:127815400-127826600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:127816000-127821600	Weak transcription	Right Ventricle	heart
37	chr2:127816000-127829000	Weak transcription	Aorta	Aorta
38	chr2:127816200-127821600	Strong transcription	Colonic Mucosa	Colon
39	chr2:127816600-127829600	Weak transcription	Brain Germinal Matrix	brain
40	chr2:127816800-127822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:127816800-127822000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:127816800-127831200	Weak transcription	Fetal Brain Female	brain
43	chr2:127817000-127821400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:127817000-127821600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:127817200-127833800	Genic enhancers	Spleen	Spleen
46	chr2:127817400-127821800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr2:127817400-127822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:127818000-127821600	Weak transcription	Hela-S3	cervix
49	chr2:127818400-127844400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr2:127818800-127821400	Strong transcription	Fetal Lung	lung

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