Variant report

Variant	nsv983335
Chromosome Location	chr12:58213657-58218396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:122)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:58217024-58217965	K562	blood:	n/a	n/a
2	BRCA1	chr12:58217797-58217905	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr12:58218011-58218092	GM12878	blood:	n/a	n/a
4	BRCA1	chr12:58216848-58216974	GM12878	blood:	n/a	n/a
5	CCNT2	chr12:58217150-58218263	K562	blood:	n/a	n/a
6	CEBPB	chr12:58217767-58217904	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr12:58217080-58217390	HepG2	liver:	n/a	n/a
8	CHD2	chr12:58217622-58217792	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr12:58216843-58217725	K562	blood:	n/a	n/a
10	CHD2	chr12:58218179-58218264	K562	blood:	n/a	n/a
11	CTCF	chr12:58215640-58215790	GM12873	blood:	n/a	n/a
12	CUX1	chr12:58216932-58217359	K562	blood:	n/a	n/a
13	ELK1	chr12:58217335-58217421	Hela-S3	cervix:	n/a	n/a
14	ELK1	chr12:58216365-58216368	Hela-S3	cervix:	n/a	n/a
15	ELK1	chr12:58217705-58217892	Hela-S3	cervix:	n/a	n/a
16	ELK1	chr12:58216944-58217272	K562	blood:	n/a	n/a
17	EP300	chr12:58217534-58217742	K562	blood:	n/a	n/a
18	FOS	chr12:58217700-58217945	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr12:58217703-58217908	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:58217706-58217946	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:58217703-58217905	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr12:58213321-58215580	HepG2	liver:	n/a	n/a
23	FOXA1	chr12:58213822-58214206	HepG2	liver:	n/a	n/a
24	FOXA1	chr12:58213888-58214366	HepG2	liver:	n/a	n/a
25	FOXA1	chr12:58213826-58214363	HepG2	liver:	n/a	n/a
26	FOXA1	chr12:58213767-58214310	HepG2	liver:	n/a	n/a
27	FOXA2	chr12:58213888-58214239	HepG2	liver:	n/a	n/a
28	FOXP2	chr12:58216129-58216374	PFSK-1	brain:	n/a	n/a
29	GABPA	chr12:58213275-58213724	HL-60	blood:	n/a	n/a
30	GTF2F1	chr12:58217024-58217236	K562	blood:	n/a	n/a
31	GTF2F1	chr12:58217712-58217900	Hela-S3	cervix:	n/a	n/a
32	JUN	chr12:58217712-58217964	HepG2	liver:	n/a	n/a
33	JUND	chr12:58217531-58217966	K562	blood:	n/a	n/a
34	JUND	chr12:58217702-58218089	HepG2	liver:	n/a	n/a
35	MAFK	chr12:58217865-58217938	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr12:58216909-58217900	K562	blood:	n/a	chr12:58217515-58217530
37	MAFK	chr12:58217765-58217823	HepG2	liver:	n/a	n/a
38	MAZ	chr12:58217536-58217902	K562	blood:	n/a	chr12:58217554-58217564
39	MAZ	chr12:58217696-58217735	HepG2	liver:	n/a	n/a
40	MAZ	chr12:58217182-58217395	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr12:58217162-58217349	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr12:58216854-58216877	Hela-S3	cervix:	n/a	n/a
43	MYBL2	chr12:58213777-58214347	HepG2	liver:	n/a	n/a
44	MYC	chr12:58217747-58217903	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:58214116-58214294	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr12:58214408-58214784	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:58215265-58215820	K562	blood:	n/a	n/a
48	POLR2A	chr12:58216531-58217427	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:58217402-58217482	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr12:58217664-58217684	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58218059-58218109	HCT-116	colon:	n/a
2	chr12:58218059-58218109	AG04449	skin:	fetal
3	chr12:58218059-58218109	AoSMC	blood vessel:	n/a
4	chr12:58217366-58217416	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:58218059-58218109	BJ	skin:	n/a
6	chr12:58217366-58217416	GM12878	blood:	n/a
7	chr12:58218059-58218109	IMR90	lung:	fetal
8	chr12:58218059-58218109	HEK293	kidney:	embryo
9	chr12:58217366-58217416	Jurkat	blood:	n/a
10	chr12:58218059-58218109	MCF10A-Er-Src	breast:	n/a
11	chr12:58218059-58218109	H1-hESC	embryonic stem cell:	embryo
12	chr12:58218059-58218109	HEEpiC	esophagus:	n/a
13	chr12:58217366-58217416	HepG2	liver:	n/a
14	chr12:58217366-58217416	AG10803	skin:	n/a
15	chr12:58217366-58217416	MCF-7	breast:	n/a
16	chr12:58218059-58218109	SAEC	small airway:	n/a
17	chr12:58217366-58217416	AG04449	skin:	fetal
18	chr12:58218059-58218109	Hela-S3	cervix:	n/a
19	chr12:58217366-58217416	HCF	heart:	n/a
20	chr12:58218059-58218109	GM19239	blood:	n/a
21	chr12:58217366-58217416	HAEpiC	amniotic membrane:	n/a
22	chr12:58218059-58218109	HepG2	liver:	n/a
23	chr12:58218059-58218109	HMEC	breast:	n/a
24	chr12:58218059-58218109	HUVEC	blood vessel:	n/a
25	chr12:58218059-58218109	SKMC	muscle:	n/a
26	chr12:58218059-58218109	ECC-1	luminal epithelium:	n/a
27	chr12:58217366-58217416	GM12892	blood:	n/a
28	chr12:58218059-58218109	Jurkat	blood:	n/a
29	chr12:58217366-58217416	HMEC	breast:	n/a
30	chr12:58217366-58217416	A549	lung:	n/a
31	chr12:58217366-58217416	NB4	blood:	n/a
32	chr12:58218059-58218109	HRPEpiC	eye:	n/a
33	chr12:58217366-58217416	SKMC	muscle:	n/a
34	chr12:58218059-58218109	NT2-D1	testis:	n/a
35	chr12:58218059-58218109	PFSK-1	brain:	n/a
36	chr12:58217366-58217416	PFSK-1	brain:	n/a
37	chr12:58218059-58218109	GM12892	blood:	n/a
38	chr12:58218059-58218109	AG09309	skin:	n/a
39	chr12:58218059-58218109	T-47D	breast:	n/a
40	chr12:58218059-58218109	HIPEpiC	eye:	n/a
41	chr12:58217366-58217416	AG04450	lung:	fetal
42	chr12:58217366-58217416	AG09319	gingival:	n/a
43	chr12:58217366-58217416	HRCEpiC	kidney:	n/a
44	chr12:58217366-58217416	HRPEpiC	eye:	n/a
45	chr12:58217366-58217416	SK-N-SH_RA	brain:	n/a
46	chr12:58218059-58218109	NHDF-neo	bronchial:	n/a
47	chr12:58217366-58217416	AG09309	skin:	n/a
48	chr12:58217366-58217416	Caco-2	colon:	n/a
49	chr12:58218059-58218109	Caco-2	colon:	n/a
50	chr12:58217366-58217416	RPTEC	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58212873..58215210-chr12:58216073..58217617,2	MCF-7	breast:
2	chr12:58211567..58213701-chr12:58218722..58220729,2	MCF-7	breast:
3	chr12:58215853..58216628-chr12:58298828..58299626,2	MCF-7	breast:
4	chr12:58209701..58211552-chr12:58217500..58219045,2	K562	blood:
5	chr12:58214310..58216353-chr12:58218118..58220758,3	MCF-7	breast:
6	chr12:58216233..58218618-chr12:58229885..58232597,3	K562	blood:
7	chr12:58216404..58218669-chr12:58237617..58240211,2	MCF-7	breast:
8	chr12:58212873..58215210-chr12:58216073..58217617,2	MCF-7	breast:
9	chr12:58206978..58209497-chr12:58211355..58214120,3	K562	blood:
10	chr12:58212086..58214984-chr12:58238632..58241452,2	K562	blood:
11	chr12:58215551..58217986-chr12:58219224..58221045,3	K562	blood:
12	chr12:58209123..58211135-chr12:58212326..58215029,2	MCF-7	breast:
13	chr12:58209482..58212402-chr12:58215450..58219043,3	MCF-7	breast:
14	chr12:58215698..58217316-chr12:58239307..58241322,2	K562	blood:
15	chr12:58217743..58220104-chr12:58222008..58224494,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	CTDSP2	hsa-miR-124-3p	chr12:58217332-58217326
2	CTDSP2	hsa-miR-124-3p	chr12:58215946-58215940
3	CTDSP2	hsa-miR-124-3p	chr12:58217326-58217345

Variant related genes	Relation type
CTDSP2	TF binding region
AVIL	TF binding region
CTDSP2	CpG island
AVIL	CpG island
ENSG00000269903	chromatin interactions
ENSG00000175215	chromatin interactions
ENSG00000257953	chromatin interactions
ENSG00000207789	chromatin interactions
ENSG00000135407	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568957103	chr12:58213679-58213680	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs563771299	chr12:58213687-58213688	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531828520	chr12:58213781-58213782	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs146355634	chr12:58213797-58213798	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs139722193	chr12:58213869-58213870	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs367991819	chr12:58213874-58213875	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs1059477	chr12:58213886-58213887	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs1059470	chr12:58213919-58213920	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs111553015	chr12:58213932-58213933	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs533854622	chr12:58213934-58213935	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs113076520	chr12:58213979-58213980	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs552308848	chr12:58213992-58213993	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs34847877	chr12:58213996-58213997	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs370978792	chr12:58214003-58214004	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs543970505	chr12:58214040-58214041	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs1059415	chr12:58214098-58214099	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs1059412	chr12:58214099-58214100	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs563477249	chr12:58214108-58214109	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs575314092	chr12:58214120-58214121	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs545842601	chr12:58214129-58214130	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs190000784	chr12:58214158-58214159	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs559666620	chr12:58214218-58214219	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs528436468	chr12:58214367-58214368	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs146589845	chr12:58214444-58214445	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs546996496	chr12:58214469-58214470	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs182521191	chr12:58214505-58214506	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs186554163	chr12:58214511-58214512	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs1801928	chr12:58214582-58214583	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11555554	chr12:58214630-58214631	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs547404309	chr12:58214636-58214637	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs569018432	chr12:58214644-58214645	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs539530526	chr12:58214652-58214653	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs567130480	chr12:58214653-58214654	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs566347970	chr12:58214709-58214710	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs536214933	chr12:58214748-58214749	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs533754199	chr12:58214788-58214789	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs555390735	chr12:58214812-58214813	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs573864757	chr12:58214823-58214824	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs549625062	chr12:58214843-58214844	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs537680571	chr12:58214910-58214911	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs142250369	chr12:58214911-58214912	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs575376429	chr12:58214928-58214929	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545893609	chr12:58214974-58214975	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs564572937	chr12:58214975-58214976	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs573170267	chr12:58214991-58214992	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs1804791	chr12:58214993-58214994	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs548496727	chr12:58215003-58215004	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs577459248	chr12:58215028-58215029	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs540603446	chr12:58215029-58215030	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs569727052	chr12:58215030-58215031	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
3	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
8	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:58194200-58215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:58198400-58215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:58201200-58215000	Weak transcription	Fetal Kidney	kidney
17	chr12:58202400-58214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:58202400-58215000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:58202400-58215200	Weak transcription	GM12878-XiMat	blood
20	chr12:58202600-58214400	Weak transcription	Dnd41	blood
21	chr12:58203400-58216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:58203800-58214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:58204200-58214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:58204200-58216400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:58204600-58214800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:58204800-58216200	Weak transcription	NHEK	skin
27	chr12:58205000-58216600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:58205000-58216600	Weak transcription	Hela-S3	cervix
29	chr12:58205200-58214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:58207400-58214400	Weak transcription	Primary T cells from cord blood	blood
31	chr12:58207400-58215000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:58208600-58215400	Enhancers	HepG2	liver
34	chr12:58209400-58216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:58209600-58216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:58209800-58213800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:58210800-58217000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:58211000-58214000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:58211000-58214000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:58211200-58216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:58211200-58216200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:58211200-58223800	Strong transcription	Osteobl	bone
44	chr12:58211400-58214000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:58211400-58215000	Weak transcription	Ovary	ovary
46	chr12:58211400-58215000	Weak transcription	Stomach Mucosa	stomach
47	chr12:58211400-58215200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:58211400-58217000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links