Variant report

Variant	nsv559035
Chromosome Location	chr12:57860972-57870648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:489)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:57869928-57870361	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr12:57869906-57870355	GM12878	blood:	n/a	n/a
3	BCLAF1	chr12:57869991-57870451	GM12878	blood:	n/a	chr12:57870072-57870085 chr12:57870070-57870083
4	BHLHE40	chr12:57869531-57870501	GM12878	blood:	n/a	chr12:57870064-57870080
5	BHLHE40	chr12:57869640-57869991	HepG2	liver:	n/a	n/a
6	BRCA1	chr12:57870082-57870195	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:57863706-57863844	HepG2	liver:	n/a	chr12:57863761-57863772
8	CEBPB	chr12:57863615-57863907	Hela-S3	cervix:	n/a	chr12:57863761-57863772
9	CEBPB	chr12:57870232-57870529	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr12:57863609-57863863	A549	lung:	n/a	chr12:57863761-57863772
11	CEBPB	chr12:57863620-57863821	IMR90	lung:	n/a	chr12:57863761-57863772
12	CEBPB	chr12:57870372-57870390	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:57863610-57863904	HepG2	liver:	n/a	chr12:57863761-57863772
14	CEBPB	chr12:57863635-57863815	K562	blood:	n/a	chr12:57863761-57863772
15	CHD1	chr12:57869643-57869794	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr12:57869717-57870571	GM12878	blood:	n/a	n/a
17	CHD2	chr12:57869961-57870301	GM12878	blood:	n/a	n/a
18	CTBP2	chr12:57869110-57870427	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:57870060-57870210	HRE	kidney:	n/a	n/a
20	CTCF	chr12:57870100-57870250	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr12:57870120-57870270	GM12872	blood:	n/a	n/a
22	CTCF	chr12:57870040-57870190	HCT-116	colon:	n/a	n/a
23	CTCF	chr12:57870080-57870230	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr12:57870060-57870210	AG09319	gingival:	n/a	n/a
25	CTCF	chr12:57870140-57870290	HL-60	blood:	n/a	n/a
26	CTCF	chr12:57870040-57870190	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr12:57870080-57870230	GM12872	blood:	n/a	n/a
28	CTCF	chr12:57870000-57870150	BJ	skin:	n/a	n/a
29	CTCF	chr12:57870059-57870257	GM20000	blood:	n/a	n/a
30	CTCF	chr12:57870060-57870210	AG04449	skin:	n/a	n/a
31	CTCF	chr12:57869705-57869795	GM10248	blood:	n/a	n/a
32	CTCF	chr12:57869880-57870030	BE2_C	brain:	n/a	n/a
33	CTCF	chr12:57870080-57870230	HEK293	kidney:	n/a	n/a
34	CTCF	chr12:57870100-57870250	GM06990	blood:	n/a	n/a
35	CTCF	chr12:57870060-57870210	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr12:57870600-57870750	GM12874	blood:	n/a	n/a
37	CTCF	chr12:57870328-57870477	GM10248	blood:	n/a	n/a
38	CTCF	chr12:57870036-57870283	GM13976	blood:	n/a	n/a
39	CTCF	chr12:57863220-57863370	HepG2	liver:	n/a	n/a
40	CTCF	chr12:57869645-57870523	GM19239	blood:	n/a	n/a
41	CTCF	chr12:57870049-57870208	ProgFib	skin:	n/a	n/a
42	CTCF	chr12:57870020-57870170	AG09309	skin:	n/a	n/a
43	CTCF	chr12:57870011-57870556	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr12:57869700-57869850	SAEC	small airway:	n/a	n/a
45	CTCF	chr12:57870000-57870150	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr12:57870107-57870177	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:57869980-57870130	A549	lung:	n/a	n/a
48	CTCF	chr12:57870640-57870790	GM12867	blood:	n/a	n/a
49	CTCF	chr12:57869788-57869916	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr12:57870066-57870168	SK-N-SH_RA	brain:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57869941-57869991	AG04449	skin:	fetal
2	chr12:57869941-57869991	AG04449	skin:	fetal
3	chr12:57866267-57866317	ovcar-3	ovarian:	n/a
4	chr12:57866267-57866317	Hela-S3	cervix:	n/a
5	chr12:57869490-57869540	PFSK-1	brain:	n/a
6	chr12:57870181-57870231	HMEC	breast:	n/a
7	chr12:57869421-57869471	Hela-S3	cervix:	n/a
8	chr12:57866267-57866317	IMR90	lung:	fetal
9	chr12:57870181-57870231	SK-N-SH	brain:	n/a
10	chr12:57869490-57869540	AG09319	gingival:	n/a
11	chr12:57863266-57863316	RPTEC	kidney:	n/a
12	chr12:57863266-57863316	U87	brain:	n/a
13	chr12:57866267-57866317	NB4	blood:	n/a
14	chr12:57869031-57869081	SK-N-SH	brain:	n/a
15	chr12:57869490-57869540	SAEC	small airway:	n/a
16	chr12:57869490-57869540	HCPEpiC	choroid plexus:	n/a
17	chr12:57866267-57866317	T-47D	breast:	n/a
18	chr12:57869031-57869081	MCF10A-Er-Src	breast:	n/a
19	chr12:57870181-57870231	HEEpiC	esophagus:	n/a
20	chr12:57869490-57869540	K562	blood:	n/a
21	chr12:57863266-57863316	GM12892	blood:	n/a
22	chr12:57869421-57869471	MCF-7	breast:	n/a
23	chr12:57865987-57866037	NT2-D1	testis:	n/a
24	chr12:57870181-57870231	AoSMC	blood vessel:	n/a
25	chr12:57870181-57870231	GM12891	blood:	n/a
26	chr12:57866267-57866317	SK-N-MC	brain:	n/a
27	chr12:57865987-57866037	HCF	heart:	n/a
28	chr12:57866267-57866317	NHBE	bronchial:	n/a
29	chr12:57866267-57866317	SKMC	muscle:	n/a
30	chr12:57869941-57869991	NB4	blood:	n/a
31	chr12:57869421-57869471	U87	brain:	n/a
32	chr12:57870181-57870231	GM12878	blood:	n/a
33	chr12:57865987-57866037	K562	blood:	n/a
34	chr12:57869421-57869471	HEEpiC	esophagus:	n/a
35	chr12:57869421-57869471	BJ	skin:	n/a
36	chr12:57869031-57869081	MCF-7	breast:	n/a
37	chr12:57869490-57869540	SK-N-SH_RA	brain:	n/a
38	chr12:57863266-57863316	HNPCEpiC	eye:	n/a
39	chr12:57870181-57870231	HCM	heart:	n/a
40	chr12:57869421-57869471	AG04449	skin:	fetal
41	chr12:57869490-57869540	AG04449	skin:	fetal
42	chr12:57869490-57869540	Caco-2	colon:	n/a
43	chr12:57869490-57869540	GM06990	blood:	n/a
44	chr12:57869031-57869081	SK-N-MC	brain:	n/a
45	chr12:57869031-57869081	CMK	blood:	n/a
46	chr12:57869941-57869991	H1-hESC	embryonic stem cell:	embryo
47	chr12:57869421-57869471	AG10803	skin:	n/a
48	chr12:57863266-57863316	AG04450	lung:	fetal
49	chr12:57869031-57869081	HCF	heart:	n/a
50	chr12:57865987-57866037	LNCaP	prostate:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57864629..57868317-chr12:57913861..57916135,3	K562	blood:
2	chr12:57864949..57866728-chr12:57912864..57915188,2	MCF-7	breast:
3	chr12:57863008..57865663-chr12:57869026..57873424,5	K562	blood:
4	chr12:57824170..57826622-chr12:57865605..57867278,2	MCF-7	breast:
5	chr12:57866650..57869717-chr12:57880833..57883787,3	MCF-7	breast:
6	chr12:57855142..57857395-chr12:57860962..57863336,2	K562	blood:
7	chr12:57856210..57858089-chr12:57864430..57867371,4	K562	blood:
8	chr12:57862840..57863340-chr2:201374709..201375212,2	NB4	blood:
9	chr12:57869564..57871597-chr12:57983396..57986014,2	K562	blood:
10	chr12:57863342..57866223-chr12:57872034..57874836,2	MCF-7	breast:
11	chr12:57854179..57856713-chr12:57863394..57866070,2	MCF-7	breast:
12	chr12:57856465..57858334-chr12:57867233..57870220,2	MCF-7	breast:
13	chr12:57861490..57863262-chr12:57881272..57883227,2	K562	blood:
14	chr12:57864629..57868923-chr12:57913251..57916366,4	K562	blood:
15	chr12:57850914..57853325-chr12:57864861..57866988,3	K562	blood:
16	chr12:57847573..57850559-chr12:57865092..57866991,2	K562	blood:
17	chr12:57851014..57853081-chr12:57861682..57863559,2	K562	blood:
18	chr12:57864997..57867695-chr12:57880330..57882792,2	K562	blood:
19	chr12:57858695..57861784-chr12:57862109..57867144,5	K562	blood:
20	chr12:57865716..57868147-chr12:57875960..57878891,2	K562	blood:
21	chr12:57855507..57859311-chr12:57860287..57863469,4	MCF-7	breast:
22	chr12:57870513..57871321-chr19:56132494..56133243,2	NB4	blood:
23	chr12:57861880..57866210-chr12:57903608..57907475,3	K562	blood:
24	chr12:57869556..57871935-chr12:57881103..57884583,3	K562	blood:

No data

Variant related genes	Relation type
ARHGAP9	TF binding region
MARS	TF binding region
ARHGAP9	CpG island
MARS	CpG island
ENSG00000155729	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000139269	chromatin interactions
ENSG00000258001	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000163535	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000252865	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000123329	chromatin interactions
ENSG00000166987	chromatin interactions

Extended variants
information (count: 474 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11830874	chr12:57860972-57860973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570813374	chr12:57860990-57860991	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535372886	chr12:57860991-57860992	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553379502	chr12:57861016-57861017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575009403	chr12:57861031-57861032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149755879	chr12:57861079-57861080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372582733	chr12:57861100-57861101	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376773615	chr12:57861123-57861124	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369128119	chr12:57861128-57861129	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144052713	chr12:57861135-57861136	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145633975	chr12:57861139-57861140	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373249560	chr12:57861144-57861145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545825775	chr12:57861148-57861149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564027387	chr12:57861162-57861163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377325662	chr12:57861169-57861170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141285593	chr12:57861181-57861182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141854128	chr12:57861208-57861209	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201283310	chr12:57861231-57861232	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200802561	chr12:57861236-57861237	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529115814	chr12:57861287-57861288	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550467434	chr12:57861300-57861301	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201324083	chr12:57861307-57861308	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117229918	chr12:57861319-57861320	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34022649	chr12:57861329-57861330	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145257887	chr12:57861341-57861342	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570549390	chr12:57861370-57861371	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534691114	chr12:57861371-57861372	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58699141	chr12:57861403-57861404	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78323455	chr12:57861404-57861405	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10783828	chr12:57861484-57861485	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs536064394	chr12:57861550-57861551	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs113257022	chr12:57861561-57861562	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs147579791	chr12:57861621-57861622	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs142102454	chr12:57861637-57861638	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs145747123	chr12:57861658-57861659	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs377737442	chr12:57861726-57861727	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370182253	chr12:57861733-57861734	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs572830977	chr12:57861734-57861735	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs539826091	chr12:57861739-57861740	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs527949917	chr12:57861743-57861744	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs113684735	chr12:57861755-57861756	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148206986	chr12:57861762-57861763	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs199831983	chr12:57861776-57861777	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs373770232	chr12:57861781-57861782	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs146290478	chr12:57861782-57861783	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs61734545	chr12:57861785-57861786	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562388922	chr12:57861789-57861790	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs142822754	chr12:57861813-57861814	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs376198615	chr12:57861833-57861834	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs370035260	chr12:57861882-57861883	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	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
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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57856200-57863200	Weak transcription	Gastric	stomach
2	chr12:57856600-57863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:57856600-57865800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:57856800-57861000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:57856800-57861000	Weak transcription	Thymus	Thymus
6	chr12:57856800-57861000	Weak transcription	Spleen	Spleen
7	chr12:57856800-57863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:57856800-57863000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:57856800-57863800	Weak transcription	Fetal Kidney	kidney
10	chr12:57856800-57864400	Weak transcription	Liver	Liver
11	chr12:57856800-57864800	Strong transcription	Fetal Lung	lung
12	chr12:57856800-57865000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:57856800-57865600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:57856800-57866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:57857000-57861000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:57857000-57861200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:57857000-57861200	Weak transcription	Fetal Thymus	thymus
18	chr12:57857000-57861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:57857000-57861800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:57857000-57862800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:57857000-57862800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:57857000-57863000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:57857000-57863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:57857000-57863000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:57857000-57863000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:57857000-57863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:57857000-57863200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:57857000-57864200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:57857000-57865800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:57857000-57868400	Weak transcription	Dnd41	blood
31	chr12:57857000-57869400	Weak transcription	Ovary	ovary
32	chr12:57857200-57862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:57857200-57866200	Strong transcription	Fetal Stomach	stomach
34	chr12:57857400-57865800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:57857800-57865400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:57858000-57861800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:57858000-57863000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:57858000-57863000	Strong transcription	Fetal Intestine Small	intestine
39	chr12:57858200-57861400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:57858600-57861000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:57858600-57861400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:57858600-57864400	Weak transcription	Colonic Mucosa	Colon
43	chr12:57859400-57861000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:57859400-57861800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:57859400-57865800	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:57859600-57870800	Weak transcription	A549	lung
47	chr12:57859800-57861600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:57859800-57861600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:57859800-57862800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:57859800-57864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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