Variant report

Variant	nsv1005423
Chromosome Location	chr2:127814781-127857751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1547)
CpG islands
(count:1100)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1547 , 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	ARID3A	chr2:127822615-127822618	K562	blood:	n/a	n/a
2	ATF2	chr2:127844404-127844947	GM12878	blood:	n/a	n/a
3	ATF2	chr2:127844429-127844950	GM12878	blood:	n/a	n/a
4	ATF2	chr2:127825499-127825993	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:127839350-127839700	GM12878	blood:	n/a	n/a
6	ATF2	chr2:127825494-127825920	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr2:127822254-127822814	A549	lung:	n/a	n/a
8	ATF3	chr2:127822130-127822684	K562	blood:	n/a	n/a
9	ATF3	chr2:127822206-127822801	K562	blood:	n/a	n/a
10	ATF3	chr2:127825607-127825875	K562	blood:	n/a	n/a
11	ATF3	chr2:127825591-127825922	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:127846567-127846639	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:127822234-127822731	K562	blood:	n/a	n/a
14	BACH1	chr2:127822214-127822973	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:127825651-127825951	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr2:127822263-127822708	GM12878	blood:	n/a	chr2:127822516-127822527 chr2:127822517-127822527
17	BCL11A	chr2:127844549-127844858	GM12878	blood:	n/a	n/a
18	BCL3	chr2:127822265-127822701	K562	blood:	n/a	n/a
19	BCL3	chr2:127821940-127822838	A549	lung:	n/a	chr2:127822050-127822059
20	BCLAF1	chr2:127822259-127822834	K562	blood:	n/a	n/a
21	BCLAF1	chr2:127839268-127839716	GM12878	blood:	n/a	n/a
22	BCLAF1	chr2:127844359-127844791	GM12878	blood:	n/a	n/a
23	BCLAF1	chr2:127822262-127822771	K562	blood:	n/a	n/a
24	BCLAF1	chr2:127825630-127825900	GM12878	blood:	n/a	n/a
25	BCLAF1	chr2:127822359-127822805	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:127822373-127822818	GM12878	blood:	n/a	n/a
27	BHLHE40	chr2:127844445-127844936	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:127838526-127839961	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:127822252-127822850	HepG2	liver:	n/a	n/a
30	BHLHE40	chr2:127844529-127844581	K562	blood:	n/a	n/a
31	BHLHE40	chr2:127825293-127825973	K562	blood:	n/a	n/a
32	BHLHE40	chr2:127842880-127843222	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:127822136-127823109	K562	blood:	n/a	n/a
34	BHLHE40	chr2:127825347-127825940	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:127838100-127838398	K562	blood:	n/a	n/a
36	BHLHE40	chr2:127825542-127825899	A549	lung:	n/a	n/a
37	BHLHE40	chr2:127825385-127825984	HepG2	liver:	n/a	n/a
38	BHLHE40	chr2:127819030-127819058	HepG2	liver:	n/a	n/a
39	BHLHE40	chr2:127823468-127823585	K562	blood:	n/a	n/a
40	BHLHE40	chr2:127841796-127841981	K562	blood:	n/a	n/a
41	BRCA1	chr2:127822361-127822759	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr2:127825637-127825851	H1-hESC	embryonic stem cell:	n/a	n/a
43	CBX3	chr2:127825343-127825988	K562	blood:	n/a	n/a
44	CBX3	chr2:127822157-127823071	K562	blood:	n/a	n/a
45	CBX3	chr2:127822261-127822889	K562	blood:	n/a	n/a
46	CCNT2	chr2:127838033-127838368	K562	blood:	n/a	n/a
47	CCNT2	chr2:127821910-127822792	K562	blood:	n/a	chr2:127822051-127822060 chr2:127822594-127822603
48	CEBPB	chr2:127840536-127840903	IMR90	lung:	n/a	chr2:127840717-127840728
49	CEBPB	chr2:127829549-127829910	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr2:127829609-127829794	K562	blood:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:127818131-127818181	GM19239	blood:	n/a
2	chr2:127819455-127819505	ovcar-3	ovarian:	n/a
3	chr2:127818131-127818181	GM19239	blood:	n/a
4	chr2:127819455-127819505	ovcar-3	ovarian:	n/a
5	chr2:127815206-127815256	GM19239	blood:	n/a
6	chr2:127819455-127819505	HepG2	liver:	n/a
7	chr2:127815206-127815256	HL-60	blood:	n/a
8	chr2:127821711-127821761	NT2-D1	testis:	n/a
9	chr2:127818046-127818096	MCF10A-Er-Src	breast:	n/a
10	chr2:127818046-127818096	MCF-7	breast:	n/a
11	chr2:127839539-127839589	GM12878	blood:	n/a
12	chr2:127818046-127818096	HEK293	kidney:	embryo
13	chr2:127818131-127818181	CMK	blood:	n/a
14	chr2:127830703-127830753	NHDF-neo	bronchial:	n/a
15	chr2:127839539-127839589	BE2_C	brain:	n/a
16	chr2:127830703-127830753	SAEC	small airway:	n/a
17	chr2:127839539-127839589	BJ	skin:	n/a
18	chr2:127815206-127815256	NB4	blood:	n/a
19	chr2:127830703-127830753	ECC-1	luminal epithelium:	n/a
20	chr2:127841945-127841995	NT2-D1	testis:	n/a
21	chr2:127826083-127826133	GM12891	blood:	n/a
22	chr2:127852450-127852500	PANC-1	pancreas:	n/a
23	chr2:127815133-127815183	U87	brain:	n/a
24	chr2:127830703-127830753	AG10803	skin:	n/a
25	chr2:127818101-127818151	NHDF-neo	bronchial:	n/a
26	chr2:127818101-127818151	HCT-116	colon:	n/a
27	chr2:127852450-127852500	HMEC	breast:	n/a
28	chr2:127826149-127826199	T-47D	breast:	n/a
29	chr2:127839539-127839589	HAEpiC	amniotic membrane:	n/a
30	chr2:127818000-127818050	AG04450	lung:	fetal
31	chr2:127818101-127818151	HEEpiC	esophagus:	n/a
32	chr2:127818046-127818096	HRCEpiC	kidney:	n/a
33	chr2:127818000-127818050	HNPCEpiC	eye:	n/a
34	chr2:127825935-127825985	H1-hESC	embryonic stem cell:	embryo
35	chr2:127830703-127830753	HL-60	blood:	n/a
36	chr2:127818046-127818096	GM12892	blood:	n/a
37	chr2:127825935-127825985	HRPEpiC	eye:	n/a
38	chr2:127815206-127815256	PrEC	prostate:	n/a
39	chr2:127815133-127815183	SAEC	small airway:	n/a
40	chr2:127818131-127818181	BE2_C	brain:	n/a
41	chr2:127825935-127825985	GM12891	blood:	n/a
42	chr2:127826149-127826199	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:127826149-127826199	NH-A	brain:	n/a
44	chr2:127815133-127815183	BE2_C	brain:	n/a
45	chr2:127817030-127817080	MCF-7	breast:	n/a
46	chr2:127818101-127818151	Caco-2	colon:	n/a
47	chr2:127826149-127826199	GM12878	blood:	n/a
48	chr2:127815206-127815256	GM12891	blood:	n/a
49	chr2:127818101-127818151	GM06990	blood:	n/a
50	chr2:127818131-127818181	HL-60	blood:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
2	chr2:127815347..127818543-chr2:127821043..127823308,3	K562	blood:
3	chr2:127825460..127825985-chr2:127931746..127932330,2	MCF-7	breast:
4	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
5	chr2:127812299..127814743-chr2:127815692..127817435,2	MCF-7	breast:
6	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
7	chr2:127825651..127827427-chr2:127830304..127832432,2	MCF-7	breast:
8	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
9	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
10	chr2:127829694..127830341-chr2:127897153..127898129,2	MCF-7	breast:
11	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
12	chr2:127822672..127825565-chr2:127830790..127832845,2	K562	blood:
13	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
14	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
15	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
16	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:
17	chr2:127819816..127822749-chr2:127823381..127826394,3	K562	blood:
18	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
19	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
20	chr2:127825712..127826261-chr2:127901784..127902300,2	MCF-7	breast:
21	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
22	chr2:127808007..127810886-chr2:127814452..127816219,3	K562	blood:
23	chr2:127834991..127836623-chr2:127840456..127842151,2	MCF-7	breast:
24	chr2:127846711..127850055-chr2:127853164..127855548,3	MCF-7	breast:
25	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
26	chr2:127844458..127846446-chr2:127850246..127851813,2	K562	blood:
27	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
28	chr2:127825650..127826234-chr2:127897075..127897865,2	MCF-7	breast:
29	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
30	chr2:127813553..127815177-chr2:127820446..127822528,2	MCF-7	breast:
31	chr2:127815185..127819090-chr2:127820939..127825042,7	K562	blood:
32	chr2:127843180..127845570-chr2:127848864..127852714,3	MCF-7	breast:
33	chr2:127840959..127842662-chr2:127845324..127846999,2	K562	blood:
34	chr2:127837291..127839948-chr2:127841422..127844629,3	K562	blood:
35	chr2:127840601..127843824-chr2:127844844..127848160,4	K562	blood:
36	chr2:127820803..127824621-chr2:127824894..127830047,6	K562	blood:
37	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
38	chr2:127825662..127826505-chr2:127954218..127955183,2	MCF-7	breast:
39	chr2:127837345..127839578-chr2:127840445..127843454,3	MCF-7	breast:
40	chr2:127857696..127862567-chr2:127862895..127866178,8	MCF-7	breast:
41	chr2:127853140..127855394-chr2:127860485..127862176,2	MCF-7	breast:
42	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
43	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:
44	chr2:127824897..127826990-chr2:127827722..127829890,2	K562	blood:
45	chr2:127825353..127826710-chr2:127931463..127932268,5	MCF-7	breast:
46	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
47	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
48	chr2:127834701..127837421-chr2:127840734..127842424,2	MCF-7	breast:
49	chr2:127842780..127845072-chr2:127863578..127865079,2	K562	blood:
50	chr2:127839430..127842816-chr2:127848432..127852029,4	MCF-7	breast:

No data

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

Extended variants
information (count: 1919 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3754618	chr2:127814781-127814782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554211381	chr2:127814806-127814807	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373590941	chr2:127814818-127814819	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187640378	chr2:127814819-127814820	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539408064	chr2:127814826-127814827	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116466976	chr2:127814832-127814833	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576329019	chr2:127814833-127814834	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3754617	chr2:127814835-127814836	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs570944862	chr2:127814927-127814928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377021053	chr2:127814995-127814996	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115790292	chr2:127814996-127814997	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371516743	chr2:127815019-127815020	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555116802	chr2:127815023-127815024	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375330493	chr2:127815024-127815025	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191760397	chr2:127815031-127815032	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373100782	chr2:127815036-127815037	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138606879	chr2:127815040-127815041	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376590911	chr2:127815042-127815043	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556381342	chr2:127815081-127815082	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577812854	chr2:127815086-127815087	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543438812	chr2:127815097-127815098	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148945502	chr2:127815133-127815134	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369899674	chr2:127815139-127815140	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76037557	chr2:127815174-127815175	Weak transcription Strong transcription Enhancers Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374490688	chr2:127815190-127815191	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149290511	chr2:127815192-127815193	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547659375	chr2:127815193-127815194	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371322455	chr2:127815205-127815206	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370357173	chr2:127815206-127815207	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188995546	chr2:127815208-127815209	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570567715	chr2:127815209-127815210	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3754616	chr2:127815218-127815219	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3754615	chr2:127815238-127815239	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569750818	chr2:127815246-127815247	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535501802	chr2:127815290-127815291	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555989078	chr2:127815301-127815302	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572657492	chr2:127815345-127815346	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535169476	chr2:127815349-127815350	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1061127	chr2:127815357-127815358	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558436971	chr2:127815360-127815361	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs115217464	chr2:127815378-127815379	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114416941	chr2:127815379-127815380	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573553751	chr2:127815384-127815385	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116250503	chr2:127815389-127815390	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543042694	chr2:127815419-127815420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185415161	chr2:127815437-127815438	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11289928	chr2:127815473-127815474	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs397873512	chr2:127815474-127815475	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143611564	chr2:127815489-127815490	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528379142	chr2:127815503-127815504	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 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:2252 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:127802400-127816000	Weak transcription	Fetal Brain Male	brain
4	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
5	chr2:127804200-127818200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:127804200-127819600	Weak transcription	Osteobl	bone
7	chr2:127804400-127820000	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr2:127804600-127817400	Genic enhancers	Fetal Muscle Leg	muscle
9	chr2:127804600-127819200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:127804800-127818200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:127804800-127819400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:127805400-127822200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:127805800-127822200	Weak transcription	Small Intestine	intestine
14	chr2:127806400-127821800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:127806800-127819000	Weak transcription	Right Atrium	heart
16	chr2:127807000-127818800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:127807200-127817200	Weak transcription	Fetal Thymus	thymus
18	chr2:127807400-127821800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:127807800-127820000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:127807800-127820800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:127807800-127821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:127808000-127816200	Weak transcription	Brain Germinal Matrix	brain
23	chr2:127808200-127819000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:127808200-127819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:127808200-127822000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:127808200-127822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:127808400-127815800	Strong transcription	Fetal Stomach	stomach
28	chr2:127808400-127820200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:127808400-127820400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:127808400-127821200	Weak transcription	Esophagus	oesophagus
31	chr2:127808400-127822200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:127808400-127825400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
34	chr2:127810200-127818200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:127810200-127821800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:127810200-127822400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:127810600-127814800	Strong transcription	Spleen	Spleen
38	chr2:127810600-127821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:127810600-127821400	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:127810800-127819000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:127810800-127822200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:127811000-127822000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:127811200-127822600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:127811600-127816400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:127811600-127821800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:127811600-127822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:127811800-127816400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:127811800-127817800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:127812000-127822200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:127812200-127821800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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