Variant report

Variant	nsv1014672
Chromosome Location	chr3:161878080-161965777
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
2	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:
3	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:
4	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
5	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
6	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:
7	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
8	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
9	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 1688 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1688 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186082033	chr3:161882407-161882408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570182801	chr3:161882414-161882415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564818666	chr3:161882432-161882433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369932601	chr3:161882443-161882444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533444585	chr3:161882471-161882472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73154059	chr3:161882472-161882473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566951449	chr3:161882484-161882485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs952874	chr3:161882541-161882542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146271802	chr3:161882591-161882592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568131973	chr3:161882595-161882596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537057479	chr3:161882613-161882614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57135470	chr3:161882631-161882632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570749883	chr3:161882636-161882637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539347923	chr3:161882700-161882701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73026863	chr3:161882739-161882740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77438834	chr3:161882763-161882764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370770124	chr3:161882788-161882789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140465888	chr3:161882895-161882896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533909856	chr3:161882945-161882946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555463334	chr3:161882992-161882993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557394030	chr3:161883014-161883015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575301128	chr3:161883039-161883040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12631780	chr3:161883064-161883065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564304414	chr3:161883073-161883074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76888102	chr3:161883086-161883087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540577471	chr3:161883114-161883115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570512003	chr3:161883122-161883123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150427775	chr3:161883134-161883135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138233712	chr3:161883171-161883172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561799111	chr3:161883182-161883183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191085087	chr3:161883251-161883252	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74623535	chr3:161883259-161883260	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570342919	chr3:161883279-161883280	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181091293	chr3:161883281-161883282	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149610263	chr3:161883287-161883288	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566731843	chr3:161883328-161883329	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535284361	chr3:161883347-161883348	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555128896	chr3:161883388-161883389	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75805423	chr3:161883396-161883397	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537948997	chr3:161883400-161883401	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs9867116	chr3:161883401-161883402	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1397232	chr3:161883420-161883421	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577077980	chr3:161883469-161883470	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs540590392	chr3:161883533-161883534	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560635416	chr3:161883545-161883546	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200977293	chr3:161883556-161883557	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs74830385	chr3:161883557-161883558	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371394765	chr3:161883558-161883559	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76946714	chr3:161883586-161883587	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201650467	chr3:161883600-161883601	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161882400-161884200	Enhancers	Dnd41	blood
2	chr3:161882400-161884600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:161882800-161884600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:161883200-161883400	Active TSS	Osteobl	bone
5	chr3:161883200-161883600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:161883400-161883800	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:161883400-161883800	Flanking Active TSS	Osteobl	bone
8	chr3:161883400-161884600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:161883600-161883800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:161883600-161884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:161883600-161884000	Enhancers	NHDF-Ad	bronchial
12	chr3:161883600-161884200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:161883600-161884200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:161883600-161884200	Enhancers	NHLF	lung
15	chr3:161883800-161884200	Enhancers	A549	lung
16	chr3:161883800-161884400	Enhancers	Osteobl	bone
17	chr3:161883800-161884600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:161884200-161885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:161884600-161885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:161884600-161886400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:161884600-161888400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:161885000-161885200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:161885600-161886400	Enhancers	Adipose Nuclei	Adipose
24	chr3:161885600-161886800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:161886400-161886800	Weak transcription	Adipose Nuclei	Adipose
26	chr3:161886400-161887000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:161886800-161887200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:161886800-161887800	Enhancers	Adipose Nuclei	Adipose
29	chr3:161887000-161888000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:161887200-161888200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:161887800-161888800	Enhancers	NH-A	brain
32	chr3:161888000-161888200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:161888200-161889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:161888400-161888800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:161889800-161890000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:161893000-161894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:161893800-161894600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:161894600-161895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:161910200-161910400	Enhancers	Psoas Muscle	Psoas
40	chr3:161910400-161911600	Enhancers	Fetal Heart	heart
41	chr3:161910600-161911000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:161910800-161911400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:161911000-161911800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:161911000-161912400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:161911600-161913400	Weak transcription	Fetal Heart	heart
47	chr3:161911800-161914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:161912600-161913600	Enhancers	Psoas Muscle	Psoas
49	chr3:161913000-161913600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:161913000-161913600	Enhancers	Skeletal Muscle Female	skeletal muscle

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