Variant report

Variant	nsv1010084
Chromosome Location	chr2:127805366-127862257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2033)
CpG islands
(count:1465)
Chromatin interactive
region (count:90)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2033 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

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	ARID3A	chr2:127807793-127807989	HepG2	liver:	n/a	n/a
3	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
4	ATF2	chr2:127825494-127825920	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
6	ATF2	chr2:127825499-127825993	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr2:127839350-127839700	GM12878	blood:	n/a	n/a
8	ATF3	chr2:127825607-127825875	K562	blood:	n/a	n/a
9	ATF3	chr2:127822254-127822814	A549	lung:	n/a	n/a
10	ATF3	chr2:127822130-127822684	K562	blood:	n/a	n/a
11	ATF3	chr2:127822206-127822801	K562	blood:	n/a	n/a
12	ATF3	chr2:127825591-127825922	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:127822214-127822973	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:127807740-127808003	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:127825651-127825951	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:127822234-127822731	K562	blood:	n/a	n/a
17	BACH1	chr2:127846567-127846639	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr2:127822263-127822708	GM12878	blood:	n/a	chr2:127822516-127822527 chr2:127822517-127822527
19	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
20	BCL3	chr2:127821940-127822838	A549	lung:	n/a	chr2:127822050-127822059
21	BCL3	chr2:127811506-127811950	GM12878	blood:	n/a	n/a
22	BCL3	chr2:127822265-127822701	K562	blood:	n/a	n/a
23	BCL3	chr2:127807664-127808252	A549	lung:	n/a	n/a
24	BCL3	chr2:127811578-127811877	GM12878	blood:	n/a	n/a
25	BCLAF1	chr2:127822262-127822771	K562	blood:	n/a	n/a
26	BCLAF1	chr2:127839268-127839716	GM12878	blood:	n/a	n/a
27	BCLAF1	chr2:127825630-127825900	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:127822259-127822834	K562	blood:	n/a	n/a
29	BCLAF1	chr2:127822359-127822805	GM12878	blood:	n/a	n/a
30	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:127844529-127844581	K562	blood:	n/a	n/a
32	BHLHE40	chr2:127825542-127825899	A549	lung:	n/a	n/a
33	BHLHE40	chr2:127823468-127823585	K562	blood:	n/a	n/a
34	BHLHE40	chr2:127825347-127825940	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:127810784-127810984	K562	blood:	n/a	n/a
36	BHLHE40	chr2:127825293-127825973	K562	blood:	n/a	n/a
37	BHLHE40	chr2:127807725-127808031	K562	blood:	n/a	chr2:127807929-127807945
38	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a
39	BHLHE40	chr2:127822373-127822818	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:127838100-127838398	K562	blood:	n/a	n/a
41	BHLHE40	chr2:127842880-127843222	GM12878	blood:	n/a	n/a
42	BHLHE40	chr2:127822252-127822850	HepG2	liver:	n/a	n/a
43	BHLHE40	chr2:127825385-127825984	HepG2	liver:	n/a	n/a
44	BHLHE40	chr2:127822136-127823109	K562	blood:	n/a	n/a
45	BHLHE40	chr2:127819030-127819058	HepG2	liver:	n/a	n/a
46	BHLHE40	chr2:127844445-127844936	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:127838526-127839961	GM12878	blood:	n/a	n/a
48	BRCA1	chr2:127822361-127822759	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr2:127807763-127808002	HepG2	liver:	n/a	n/a
50	BRCA1	chr2:127825637-127825851	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127818000-127818050	AG04450	lung:	fetal
2	chr2:127818000-127818050	AG04450	lung:	fetal
3	chr2:127805770-127805820	BE2_C	brain:	n/a
4	chr2:127818000-127818050	HRCEpiC	kidney:	n/a
5	chr2:127818046-127818096	U87	brain:	n/a
6	chr2:127826149-127826199	SKMC	muscle:	n/a
7	chr2:127821711-127821761	AG09319	gingival:	n/a
8	chr2:127818226-127818276	BJ	skin:	n/a
9	chr2:127841945-127841995	HMEC	breast:	n/a
10	chr2:127818226-127818276	HRE	kidney:	n/a
11	chr2:127841945-127841995	AG04450	lung:	fetal
12	chr2:127861092-127861142	MCF-7	breast:	n/a
13	chr2:127830703-127830753	HepG2	liver:	n/a
14	chr2:127821711-127821761	Jurkat	blood:	n/a
15	chr2:127819455-127819505	H1-hESC	embryonic stem cell:	embryo
16	chr2:127841945-127841995	SK-N-SH	brain:	n/a
17	chr2:127818226-127818276	T-47D	breast:	n/a
18	chr2:127821711-127821761	AG04449	skin:	fetal
19	chr2:127818101-127818151	GM12892	blood:	n/a
20	chr2:127818131-127818181	GM12892	blood:	n/a
21	chr2:127841945-127841995	SKMC	muscle:	n/a
22	chr2:127830703-127830753	SKMC	muscle:	n/a
23	chr2:127826083-127826133	U87	brain:	n/a
24	chr2:127825935-127825985	HEEpiC	esophagus:	n/a
25	chr2:127852450-127852500	NHDF-neo	bronchial:	n/a
26	chr2:127819455-127819505	GM06990	blood:	n/a
27	chr2:127852450-127852500	SAEC	small airway:	n/a
28	chr2:127805910-127805960	Jurkat	blood:	n/a
29	chr2:127805770-127805820	BJ	skin:	n/a
30	chr2:127839539-127839589	BE2_C	brain:	n/a
31	chr2:127815133-127815183	HepG2	liver:	n/a
32	chr2:127815133-127815183	GM12878	blood:	n/a
33	chr2:127818046-127818096	HCF	heart:	n/a
34	chr2:127818046-127818096	Hela-S3	cervix:	n/a
35	chr2:127852450-127852500	SK-N-SH	brain:	n/a
36	chr2:127818226-127818276	ProgFib	skin:	n/a
37	chr2:127822551-127822601	HepG2	liver:	n/a
38	chr2:127805910-127805960	H1-hESC	embryonic stem cell:	embryo
39	chr2:127826149-127826199	HEK293	kidney:	embryo
40	chr2:127839539-127839589	PANC-1	pancreas:	n/a
41	chr2:127852450-127852500	AG09319	gingival:	n/a
42	chr2:127861092-127861142	Caco-2	colon:	n/a
43	chr2:127818131-127818181	CMK	blood:	n/a
44	chr2:127825935-127825985	GM19239	blood:	n/a
45	chr2:127818000-127818050	T-47D	breast:	n/a
46	chr2:127805910-127805960	RPTEC	kidney:	n/a
47	chr2:127822551-127822601	HAEpiC	amniotic membrane:	n/a
48	chr2:127852450-127852500	PANC-1	pancreas:	n/a
49	chr2:127852450-127852500	SK-N-SH_RA	brain:	n/a
50	chr2:127818226-127818276	NHDF-neo	bronchial:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:127825460..127825985-chr2:127931746..127932330,2	MCF-7	breast:
2	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
3	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
4	chr2:127805679..127808550-chr2:127820998..127823785,2	MCF-7	breast:
5	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
6	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:
7	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
8	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
9	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
10	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
11	chr2:127812772..127815710-chr2:127817588..127820461,3	K562	blood:
12	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
13	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
14	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
15	chr2:127822075..127822831-chr2:128145042..128145699,2	Hela-S3	cervix:
16	chr2:127809898..127812598-chr2:127812721..127816309,3	MCF-7	breast:
17	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
18	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
19	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
20	chr2:127815347..127818543-chr2:127821043..127823308,3	K562	blood:
21	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
22	chr2:127812073..127814969-chr2:127823629..127825354,2	K562	blood:
23	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
24	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
25	chr2:127806982..127809850-chr2:127810680..127814139,4	K562	blood:
26	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
27	chr2:127825662..127826505-chr2:127954218..127955183,2	MCF-7	breast:
28	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
29	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
30	chr2:127825705..127826883-chr2:127897059..127898198,8	MCF-7	breast:
31	chr2:127846603..127849237-chr2:127850068..127853450,3	K562	blood:
32	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
33	chr2:127729704..127730234-chr2:127807453..127808173,2	K562	blood:
34	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
35	chr2:127808007..127810886-chr2:127814452..127816219,3	K562	blood:
36	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
37	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
38	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
39	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
40	chr2:127812299..127814743-chr2:127815692..127817435,2	MCF-7	breast:
41	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
42	chr2:127818793..127821567-chr2:127826127..127828276,2	MCF-7	breast:
43	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
44	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:
45	chr2:127782007..127782956-chr2:127806151..127807307,3	MCF-7	breast:
46	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
47	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
48	chr2:127822717..127824541-chr2:127837362..127839026,2	MCF-7	breast:
49	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:
50	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP27C1-1	chr2:127861773-127862104	expReg_chr2_9105_-

No data

Variant related genes	Relation type
BIN1	TF binding region
BIN1	CpG island
ENSG00000136717	chromatin interactions
ENSG00000064419	chromatin interactions
ENSG00000260163	chromatin interactions
ENSG00000169967	chromatin interactions

Extended variants
information (count: 2604 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2604 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535599596	chr2:127805412-127805413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552928355	chr2:127805427-127805428	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572140686	chr2:127805457-127805458	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541302780	chr2:127805458-127805459	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7557638	chr2:127805473-127805474	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs578207259	chr2:127805506-127805507	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376377070	chr2:127805514-127805515	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367722224	chr2:127805546-127805547	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187040996	chr2:127805552-127805553	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542788087	chr2:127805553-127805554	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372716123	chr2:127805565-127805566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559377054	chr2:127805580-127805581	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77059199	chr2:127805601-127805602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367627116	chr2:127805623-127805624	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371794635	chr2:127805632-127805633	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201609822	chr2:127805633-127805634	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369704619	chr2:127805653-127805654	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs762742	chr2:127805758-127805759	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs762741	chr2:127805768-127805769	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571417554	chr2:127805800-127805801	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191136522	chr2:127805824-127805825	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550498319	chr2:127805835-127805836	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567164779	chr2:127805856-127805857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535537313	chr2:127805883-127805884	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182264775	chr2:127805884-127805885	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565856632	chr2:127805908-127805909	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534663022	chr2:127805911-127805912	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558139230	chr2:127805919-127805920	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578146778	chr2:127805942-127805943	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs762740	chr2:127805949-127805950	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544144460	chr2:127805961-127805962	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111649895	chr2:127806020-127806021	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542724900	chr2:127806063-127806064	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371771488	chr2:127806066-127806067	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368370162	chr2:127806075-127806076	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372056069	chr2:127806076-127806077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200108564	chr2:127806080-127806081	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201724515	chr2:127806093-127806094	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369990800	chr2:127806094-127806095	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373808212	chr2:127806103-127806104	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375004668	chr2:127806106-127806107	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199908147	chr2:127806110-127806111	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187977939	chr2:127806111-127806112	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs578196295	chr2:127806138-127806139	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147655157	chr2:127806143-127806144	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs762739	chr2:127806158-127806159	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs121909275	chr2:127806161-127806162	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368983991	chr2:127806176-127806177	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372449622	chr2:127806216-127806217	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550886832	chr2:127806225-127806226	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2806 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127793200-127805400	Weak transcription	Liver	Liver
3	chr2:127795800-127807600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:127797800-127805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:127798200-127811400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:127799600-127805800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:127799600-127805800	Weak transcription	Gastric	stomach
8	chr2:127799600-127806200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:127800000-127807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:127800200-127807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:127801200-127806000	Weak transcription	NHLF	lung
12	chr2:127801600-127807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:127802200-127813600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:127802400-127816000	Weak transcription	Fetal Brain Male	brain
16	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
17	chr2:127802800-127805400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:127803200-127805400	Weak transcription	Fetal Heart	heart
19	chr2:127803600-127805400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:127803600-127805400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:127803600-127805400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:127803600-127805400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:127803600-127805400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:127803600-127805400	Weak transcription	Ovary	ovary
25	chr2:127803600-127805400	Weak transcription	Thymus	Thymus
26	chr2:127803800-127805400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:127803800-127805400	Weak transcription	Brain Substantia Nigra	brain
28	chr2:127803800-127806000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:127803800-127807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:127803800-127814200	Weak transcription	HSMM	muscle
31	chr2:127804000-127805400	Weak transcription	Lung	lung
32	chr2:127804000-127805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:127804000-127805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:127804000-127805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:127804000-127805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:127804000-127806000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:127804000-127807600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:127804000-127808000	Weak transcription	Right Ventricle	heart
39	chr2:127804000-127810600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:127804000-127813400	Weak transcription	Primary B cells from cord blood	blood
41	chr2:127804000-127814400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:127804200-127805400	Weak transcription	HSMMtube	muscle
43	chr2:127804200-127805800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:127804200-127805800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:127804200-127806600	Strong transcription	Brain Hippocampus Middle	brain
46	chr2:127804200-127818200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:127804200-127819600	Weak transcription	Osteobl	bone
48	chr2:127804400-127805400	Weak transcription	Fetal Lung	lung
49	chr2:127804400-127806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:127804400-127806400	Weak transcription	Fetal Thymus	thymus

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