Variant report

Variant	nsv1044248
Chromosome Location	chr12:87357657-87444309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:87376736..87379148-chr12:87408006..87409813,2	K562	blood:
2	chr12:87376736..87379148-chr12:87408006..87409813,2	K562	blood:
3	chr12:87386481..87388359-chr12:87403399..87406210,2	MCF-7	breast:
4	chr12:87386481..87388359-chr12:87403399..87406210,2	MCF-7	breast:

Extended variants
information (count: 1738 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1738 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571094530	chr12:87357672-87357673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560638149	chr12:87357675-87357676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144674220	chr12:87357716-87357717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147485912	chr12:87357717-87357718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57325151	chr12:87357733-87357734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531955351	chr12:87357746-87357747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140022797	chr12:87357781-87357782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149977603	chr12:87357879-87357880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533018458	chr12:87357880-87357881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113680336	chr12:87357960-87357961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368707565	chr12:87357997-87357998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149208820	chr12:87358047-87358048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113929687	chr12:87358127-87358128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116901676	chr12:87358130-87358131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117123338	chr12:87358181-87358182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11104211	chr12:87358230-87358231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114017067	chr12:87358242-87358243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555413798	chr12:87358252-87358253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386764992	chr12:87358291-87358292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111245561	chr12:87358292-87358293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577974892	chr12:87358301-87358302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540694184	chr12:87358331-87358332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554163853	chr12:87358340-87358341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186775427	chr12:87358363-87358364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543236773	chr12:87358411-87358412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562952176	chr12:87358413-87358414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572458322	chr12:87358446-87358447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142468795	chr12:87358455-87358456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540178083	chr12:87358492-87358493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545400104	chr12:87358497-87358498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11104212	chr12:87358510-87358511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568693659	chr12:87358512-87358513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146832638	chr12:87358513-87358514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367592146	chr12:87358518-87358519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191247762	chr12:87358519-87358520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566226668	chr12:87358520-87358521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528994381	chr12:87358579-87358580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140668368	chr12:87358583-87358584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145836252	chr12:87358659-87358660	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185747018	chr12:87358665-87358666	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557780916	chr12:87358675-87358676	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571549332	chr12:87358688-87358689	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534184451	chr12:87358731-87358732	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554250644	chr12:87358770-87358771	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372083940	chr12:87358790-87358791	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574144121	chr12:87358811-87358812	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138586471	chr12:87358821-87358822	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190441606	chr12:87358837-87358838	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576576839	chr12:87358840-87358841	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545618136	chr12:87358864-87358865	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87350200-87358000	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:87351200-87358800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:87354400-87363000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:87356400-87358600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:87358000-87358600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:87358600-87359400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr12:87358600-87359400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:87359400-87360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:87359400-87360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:87360000-87362400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:87360800-87362000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr12:87362400-87363200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:87363000-87364800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr12:87363200-87364400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr12:87363200-87365200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr12:87364400-87364800	Active TSS	Gastric	stomach
17	chr12:87364400-87365000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:87377400-87378000	Enhancers	Fetal Heart	heart
19	chr12:87379000-87379600	Enhancers	Liver	Liver
20	chr12:87385200-87385600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:87392200-87395200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr12:87392400-87393600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr12:87394800-87395000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:87394800-87395200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr12:87395000-87401400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:87398800-87424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:87402400-87403000	Enhancers	Liver	Liver
28	chr12:87414400-87414600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:87414800-87415200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:87435000-87435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:87435200-87436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:87441800-87442000	Enhancers	Fetal Brain Male	brain
33	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain

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