Variant report

Variant	nsv520857
Chromosome Location	chr12:85919312-85927862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:85916869..85918658-chr12:85921402..85924342,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs7976869	chr12:85919312-85919313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573137462	chr12:85919315-85919316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146511973	chr12:85919321-85919322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538726175	chr12:85919326-85919327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184096491	chr12:85919333-85919334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574256045	chr12:85919344-85919345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544554322	chr12:85919379-85919380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562757428	chr12:85919401-85919402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76947991	chr12:85919406-85919407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536488494	chr12:85919506-85919507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149457712	chr12:85919507-85919508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118076796	chr12:85919595-85919596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188196064	chr12:85919600-85919601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560378418	chr12:85919622-85919623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527528834	chr12:85919649-85919650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374758218	chr12:85919657-85919658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549199498	chr12:85919664-85919665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192197186	chr12:85919684-85919685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531520368	chr12:85919735-85919736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549724176	chr12:85919871-85919872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571285842	chr12:85919878-85919879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182422691	chr12:85919938-85919939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538332799	chr12:85919942-85919943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553493350	chr12:85919970-85919971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12230791	chr12:85919981-85919982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534080941	chr12:85920043-85920044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148668267	chr12:85920050-85920051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60817349	chr12:85920051-85920052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78723537	chr12:85920061-85920062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187148463	chr12:85920116-85920117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567976682	chr12:85920121-85920122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141254051	chr12:85920143-85920144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145006180	chr12:85920232-85920233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138796918	chr12:85920300-85920301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149377567	chr12:85920315-85920316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572579969	chr12:85920337-85920338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143686751	chr12:85920371-85920372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74338207	chr12:85920376-85920377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531615052	chr12:85920402-85920403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191197252	chr12:85920423-85920424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564889243	chr12:85920424-85920425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532028459	chr12:85920495-85920496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546992973	chr12:85920498-85920499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148150400	chr12:85920527-85920528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141943735	chr12:85920546-85920547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549527776	chr12:85920584-85920585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147333350	chr12:85920657-85920658	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184541057	chr12:85920721-85920722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs35384460	chr12:85920723-85920724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538520486	chr12:85920735-85920736	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Malignant peripheral nerve sheath tumor	18522746	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85916800-85920200	Weak transcription	GM12878-XiMat	blood
2	chr12:85920200-85920600	Enhancers	GM12878-XiMat	blood
3	chr12:85920400-85921800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:85920600-85921800	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:85920800-85921600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:85920800-85921600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:85920800-85922400	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:85921000-85921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:85921200-85921400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:85921200-85921400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:85921200-85921400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:85921200-85921600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:85921200-85921600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:85921200-85921600	Enhancers	Fetal Thymus	thymus
15	chr12:85921400-85922200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:85921400-85924200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:85921400-85925200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:85921600-85926200	Enhancers	Fetal Intestine Small	intestine
19	chr12:85921800-85922600	Enhancers	GM12878-XiMat	blood
20	chr12:85922200-85922400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:85922400-85924000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:85922400-85924200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:85922600-85924000	Weak transcription	GM12878-XiMat	blood
24	chr12:85923200-85923400	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:85923200-85926200	Enhancers	Fetal Intestine Large	intestine
26	chr12:85924000-85924200	Active TSS	Duodenum Mucosa	Duodenum
27	chr12:85924000-85925000	Enhancers	GM12878-XiMat	blood
28	chr12:85924200-85924400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr12:85924400-85924600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:85924400-85924600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:85924400-85924600	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:85925000-85925400	Active TSS	GM12878-XiMat	blood
33	chr12:85925400-85925600	Flanking Active TSS	GM12878-XiMat	blood
34	chr12:85925600-85926200	Enhancers	GM12878-XiMat	blood

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