Variant report

Variant	nsv455665
Chromosome Location	chr12:85185396-85257445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:85232820..85235309-chr12:85237518..85239463,2	K562	blood:
2	chr12:85217121..85219586-chr12:85222343..85224592,2	MCF-7	breast:
3	chr12:85031251..85032044-chr12:85236099..85236834,2	MCF-7	breast:
4	chr12:84901925..84902765-chr12:85235880..85236805,3	MCF-7	breast:
5	chr12:85207233..85209066-chr12:85209280..85211825,2	K562	blood:
6	chr12:85217121..85219586-chr12:85222343..85224592,2	MCF-7	breast:
7	chr12:84896709..84897539-chr12:85236279..85236879,3	MCF-7	breast:
8	chr12:85257218..85259275-chr12:85261171..85263278,2	K562	blood:
9	chr12:85207233..85209066-chr12:85209280..85211825,2	K562	blood:
10	chr12:85232820..85235309-chr12:85237518..85239463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072041	chromatin interactions

Extended variants
information (count: 1785 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1785 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1782934	chr12:85185396-85185397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139368291	chr12:85185447-85185448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76943998	chr12:85185459-85185460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1670003	chr12:85185474-85185475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541691528	chr12:85185488-85185489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531065234	chr12:85185493-85185494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561359457	chr12:85185522-85185523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539242548	chr12:85185529-85185530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552759150	chr12:85185585-85185586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142781548	chr12:85185611-85185612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146052041	chr12:85185622-85185623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552679736	chr12:85185744-85185745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76355978	chr12:85185819-85185820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1376988	chr12:85185855-85185856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140014079	chr12:85185910-85185911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35481426	chr12:85185923-85185924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545753514	chr12:85185927-85185928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80226243	chr12:85186007-85186008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558066191	chr12:85186029-85186030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79562995	chr12:85186031-85186032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148553921	chr12:85186043-85186044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147170931	chr12:85186044-85186045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564022035	chr12:85186045-85186046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398116696	chr12:85186047-85186048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540422274	chr12:85186049-85186050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183093406	chr12:85186058-85186059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530097994	chr12:85186119-85186120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542209427	chr12:85186158-85186159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563505063	chr12:85186182-85186183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531250437	chr12:85186185-85186186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552487002	chr12:85186253-85186254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11116600	chr12:85186312-85186313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187024626	chr12:85186328-85186329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201958251	chr12:85186345-85186346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546782072	chr12:85186352-85186353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567827596	chr12:85186363-85186364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376308461	chr12:85186394-85186395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535158873	chr12:85186430-85186431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192716004	chr12:85186442-85186443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1782935	chr12:85186492-85186493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34708319	chr12:85186580-85186581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182844232	chr12:85186659-85186660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116766371	chr12:85186664-85186665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149808342	chr12:85186694-85186695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374078243	chr12:85186706-85186707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187741581	chr12:85186739-85186740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555553045	chr12:85186848-85186849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145757827	chr12:85186931-85186932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1670002	chr12:85186932-85186933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148571479	chr12:85187029-85187030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85184400-85185600	Enhancers	HMEC	breast
2	chr12:85184800-85185800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:85185200-85185600	Enhancers	NHEK	skin
4	chr12:85185200-85185800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:85185200-85185800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:85185400-85185600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:85185400-85185600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:85185400-85185800	Enhancers	HSMM	muscle
9	chr12:85185600-85187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:85185600-85187200	Weak transcription	NHEK	skin
11	chr12:85185600-85187600	Weak transcription	HMEC	breast
12	chr12:85185800-85186800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:85185800-85187200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:85186800-85188200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:85187000-85188200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:85187200-85188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:85187200-85188000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:85187200-85188200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:85187200-85188200	Enhancers	NH-A	brain
20	chr12:85187200-85188200	Enhancers	Osteobl	bone
21	chr12:85187200-85189000	Enhancers	NHEK	skin
22	chr12:85187400-85188000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:85187400-85188000	Enhancers	NHDF-Ad	bronchial
24	chr12:85187600-85188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:85187600-85188600	Enhancers	HMEC	breast
26	chr12:85187800-85188200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:85188000-85189200	Enhancers	Placenta	Placenta
28	chr12:85188200-85189200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:85189200-85190000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:85189200-85190200	Weak transcription	Placenta	Placenta
31	chr12:85190200-85190400	Enhancers	Placenta	Placenta
32	chr12:85193600-85193800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr12:85194200-85194400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr12:85195400-85195600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr12:85195400-85195600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr12:85195400-85195600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr12:85195400-85196200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr12:85195600-85195800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr12:85195800-85196400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr12:85197200-85197800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr12:85197200-85198000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr12:85197400-85198000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:85197600-85197800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:85197600-85197800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr12:85197600-85197800	Enhancers	NH-A	brain
46	chr12:85197600-85198000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:85197800-85200800	Weak transcription	NH-A	brain
48	chr12:85198000-85198400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:85198000-85200600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:85198000-85201000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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