Variant report

Variant	nsv559018
Chromosome Location	chr12:57112637-57114012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr12:57112810-57113091	K562	blood:	n/a	n/a
2	HEY1	chr12:57111440-57112682	K562	blood:	n/a	n/a
3	HEY1	chr12:57113606-57114096	K562	blood:	n/a	n/a
4	POLR2A	chr12:57113730-57114401	U87	brain:	n/a	n/a
5	POLR2A	chr12:57113885-57113917	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:57112678-57112796	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:57111493-57112758	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:57109223-57113587	K562	blood:	n/a	n/a
9	POLR2A	chr12:57113704-57113981	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr12:57113618-57113673	K562	blood:	n/a	n/a
11	POLR2A	chr12:57112599-57115857	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:57113929-57115771	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr12:57112815-57113251	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:57113810-57113918	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:57112667-57112678	ProgFib	skin:	n/a	n/a
16	POLR2A	chr12:57113284-57113661	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr12:57112899-57113514	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:57113947-57113957	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:57113675-57114456	U87	brain:	n/a	n/a
20	POLR2A	chr12:57112650-57113668	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:57113372-57113717	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:57112732-57113502	U87	brain:	n/a	n/a
23	POLR2A	chr12:57112572-57112960	GM12891	blood:	n/a	n/a
24	POLR2A	chr12:57111868-57112834	HL-60	blood:	n/a	n/a
25	POLR2A	chr12:57111836-57114109	K562	blood:	n/a	n/a
26	POLR2A	chr12:57111849-57115834	K562	blood:	n/a	n/a
27	POLR2A	chr12:57113572-57113590	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:57112455-57113233	K562	blood:	n/a	n/a
29	POLR2A	chr12:57112684-57113188	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr12:57112663-57112836	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:57113138-57113802	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:57112257-57114921	A549	lung:	n/a	n/a
33	POLR2A	chr12:57113562-57113743	K562	blood:	n/a	n/a
34	POLR2A	chr12:57113250-57113647	K562	blood:	n/a	n/a
35	POLR2A	chr12:57113794-57114141	K562	blood:	n/a	n/a
36	POLR2A	chr12:57112539-57112770	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:57113022-57113562	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:57112532-57115744	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:57113873-57114675	K562	blood:	n/a	n/a
40	POLR2A	chr12:57112597-57113151	K562	blood:	n/a	n/a
41	POLR2A	chr12:57113131-57113437	U87	brain:	n/a	n/a
42	POLR2A	chr12:57113802-57114403	GM12891	blood:	n/a	n/a
43	POLR2A	chr12:57113481-57113567	MCF-7	breast:	n/a	n/a
44	POLR2A	chr12:57113975-57114368	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:57109094-57117058	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr12:57112634-57115751	K562	blood:	n/a	n/a
47	POLR2A	chr12:57112037-57112653	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:57111326-57114042	GM12892	blood:	n/a	n/a
49	POLR2A	chr12:57112892-57113039	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr12:57109486-57115298	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57113463-57113513	GM12892	blood:	n/a
2	chr12:57113463-57113513	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:57113463-57113513	GM12891	blood:	n/a
4	chr12:57113463-57113513	PrEC	prostate:	n/a
5	chr12:57113463-57113513	HCT-116	colon:	n/a
6	chr12:57113463-57113513	AG04449	skin:	fetal
7	chr12:57113463-57113513	NT2-D1	testis:	n/a
8	chr12:57113463-57113513	CMK	blood:	n/a
9	chr12:57113463-57113513	A549	lung:	n/a
10	chr12:57113463-57113513	HRPEpiC	eye:	n/a
11	chr12:57113463-57113513	AG04450	lung:	fetal
12	chr12:57113463-57113513	BE2_C	brain:	n/a
13	chr12:57113463-57113513	HL-60	blood:	n/a
14	chr12:57113463-57113513	SKMC	muscle:	n/a
15	chr12:57113463-57113513	U87	brain:	n/a
16	chr12:57113463-57113513	AG09309	skin:	n/a
17	chr12:57113463-57113513	AoSMC	blood vessel:	n/a
18	chr12:57113463-57113513	SK-N-SH_RA	brain:	n/a
19	chr12:57113463-57113513	SK-N-SH	brain:	n/a
20	chr12:57113463-57113513	NHDF-neo	bronchial:	n/a
21	chr12:57113463-57113513	Hepatocyte	liver:	n/a
22	chr12:57113463-57113513	K562	blood:	n/a
23	chr12:57113463-57113513	GM12878	blood:	n/a
24	chr12:57113463-57113513	SK-N-MC	brain:	n/a
25	chr12:57113463-57113513	IMR90	lung:	fetal
26	chr12:57113463-57113513	HIPEpiC	eye:	n/a
27	chr12:57113463-57113513	LNCaP	prostate:	n/a
28	chr12:57113463-57113513	HNPCEpiC	eye:	n/a
29	chr12:57113463-57113513	HEEpiC	esophagus:	n/a
30	chr12:57113463-57113513	ProgFib	skin:	n/a
31	chr12:57113463-57113513	H1-hESC	embryonic stem cell:	embryo
32	chr12:57113463-57113513	HepG2	liver:	n/a
33	chr12:57113463-57113513	HUVEC	blood vessel:	n/a
34	chr12:57113463-57113513	BJ	skin:	n/a
35	chr12:57113463-57113513	Caco-2	colon:	n/a
36	chr12:57113463-57113513	NHBE	bronchial:	n/a
37	chr12:57113463-57113513	RPTEC	kidney:	n/a
38	chr12:57113463-57113513	PANC-1	pancreas:	n/a
39	chr12:57113463-57113513	NH-A	brain:	n/a
40	chr12:57113463-57113513	AG10803	skin:	n/a
41	chr12:57113463-57113513	AG09319	gingival:	n/a
42	chr12:57113463-57113513	PFSK-1	brain:	n/a
43	chr12:57113463-57113513	HMEC	breast:	n/a
44	chr12:57113463-57113513	ECC-1	luminal epithelium:	n/a
45	chr12:57113463-57113513	GM19239	blood:	n/a
46	chr12:57113463-57113513	SAEC	small airway:	n/a
47	chr12:57113463-57113513	HRE	kidney:	n/a
48	chr12:57113463-57113513	MCF-7	breast:	n/a
49	chr12:57113463-57113513	HRCEpiC	kidney:	n/a
50	chr12:57113463-57113513	HCPEpiC	choroid plexus:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56510526..56513327-chr12:57111291..57113363,2	K562	blood:
2	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
3	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
4	chr12:57112603..57114130-chr12:57504633..57506166,2	K562	blood:
5	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
6	chr12:57038025..57041646-chr12:57113711..57120620,12	MCF-7	breast:
7	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:
8	chr12:57113156..57115169-chr12:57146013..57147663,2	K562	blood:
9	chr12:57091435..57092961-chr12:57113686..57115355,2	K562	blood:
10	chr12:57113713..57116326-chr12:57145534..57147437,2	MCF-7	breast:
11	chr12:57112436..57114253-chr12:57144608..57146371,2	K562	blood:
12	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
13	chr12:57111474..57114081-chr12:57143216..57146135,2	MCF-7	breast:
14	chr12:57113663..57115512-chr12:57124278..57127097,2	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
NACA	CpG island
ENSG00000076108	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000198056	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000207031	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000110955	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11171951	chr12:57112637-57112638	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369567341	chr12:57112659-57112660	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs201396601	chr12:57112672-57112673	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs148468202	chr12:57112682-57112683	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs551627714	chr12:57112698-57112699	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs185499344	chr12:57112713-57112714	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs143515670	chr12:57112717-57112718	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs374730583	chr12:57112730-57112731	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs200685659	chr12:57112735-57112736	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs548942275	chr12:57112744-57112745	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs372139516	chr12:57112745-57112746	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs199689133	chr12:57112748-57112749	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs376972317	chr12:57112755-57112756	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs369653107	chr12:57112756-57112757	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs372688513	chr12:57112759-57112760	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs377282943	chr12:57112776-57112777	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs549577760	chr12:57112817-57112818	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs201610743	chr12:57112833-57112834	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs369142123	chr12:57112851-57112852	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs111411917	chr12:57112861-57112862	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs147175626	chr12:57112902-57112903	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs377000958	chr12:57112914-57112915	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs369140518	chr12:57112921-57112922	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs553458607	chr12:57112951-57112952	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs372899081	chr12:57112999-57113000	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs376136932	chr12:57113044-57113045	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs373296467	chr12:57113064-57113065	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs374494657	chr12:57113090-57113091	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs376486851	chr12:57113137-57113138	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs76463302	chr12:57113141-57113142	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs370374927	chr12:57113150-57113151	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs373582016	chr12:57113154-57113155	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs7133373	chr12:57113172-57113173	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs543390709	chr12:57113186-57113187	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs565179983	chr12:57113214-57113215	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs370422156	chr12:57113219-57113220	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs368887203	chr12:57113227-57113228	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs375312973	chr12:57113248-57113249	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs140274839	chr12:57113275-57113276	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs372593565	chr12:57113282-57113283	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs372550236	chr12:57113291-57113292	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs377222293	chr12:57113307-57113308	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs199720717	chr12:57113346-57113347	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs144176092	chr12:57113357-57113358	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs560586465	chr12:57113360-57113361	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs374836466	chr12:57113363-57113364	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs369191826	chr12:57113376-57113377	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs200069809	chr12:57113390-57113391	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs549476423	chr12:57113398-57113399	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs201981844	chr12:57113404-57113405	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57104000-57114600	Weak transcription	Fetal Brain Male	brain
2	chr12:57104600-57115000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:57109200-57116200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:57109400-57114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:57109600-57115400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
9	chr12:57109600-57116000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr12:57109600-57117000	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr12:57109600-57117000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:57109600-57117800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:57109800-57113600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:57109800-57113600	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr12:57109800-57114400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:57109800-57114600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:57109800-57115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr12:57109800-57117200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57110000-57112800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:57110200-57113200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:57110200-57115400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr12:57110200-57115800	Genic enhancers	Placenta	Placenta
23	chr12:57110200-57116800	Genic enhancers	Fetal Stomach	stomach
24	chr12:57110400-57112800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:57110400-57113000	Weak transcription	Gastric	stomach
26	chr12:57110400-57113200	Weak transcription	Brain Angular Gyrus	brain
27	chr12:57110400-57116800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:57110400-57117600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr12:57110600-57112800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:57110600-57112800	Weak transcription	HMEC	breast
31	chr12:57110600-57113000	Weak transcription	NHDF-Ad	bronchial
32	chr12:57110600-57113800	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:57110800-57112800	Enhancers	Primary B cells from cord blood	blood
34	chr12:57110800-57113200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:57110800-57114600	Weak transcription	Ovary	ovary
36	chr12:57111000-57112800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:57111000-57112800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:57111000-57113000	Weak transcription	NHLF	lung
39	chr12:57111000-57113800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:57111200-57112800	Weak transcription	Colonic Mucosa	Colon
41	chr12:57111200-57112800	Genic enhancers	Fetal Thymus	thymus
42	chr12:57111200-57113200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:57111200-57113800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:57111200-57114800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:57111200-57114800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:57111200-57114800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:57111400-57112800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:57111400-57112800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:57111400-57113200	Enhancers	Colon Smooth Muscle	Colon
50	chr12:57111400-57114800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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