Variant report

Variant	nsv515852
Chromosome Location	chr3:164225150-164253223
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	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:
2	chr3:164097711..164098324-chr3:164241488..164242482,3	MCF-7	breast:
3	chr3:164097711..164098324-chr3:164241488..164242187,2	MCF-7	breast:
4	chr3:164097709..164098424-chr3:164241494..164242452,3	MCF-7	breast:
5	chr3:164241644..164242499-chr3:164352238..164353178,5	MCF-7	breast:
6	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:
7	chr3:164241669..164242499-chr3:164352238..164352926,2	MCF-7	breast:
8	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:
9	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:

No data

Extended variants
information (count: 146 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6788023	chr3:164225656-164225657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564034660	chr3:164225709-164225710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544162114	chr3:164225736-164225737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140018990	chr3:164225740-164225741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562548828	chr3:164225855-164225856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532677051	chr3:164225889-164225890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552188730	chr3:164225896-164225897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80127810	chr3:164225912-164225913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528175087	chr3:164225960-164225961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547840382	chr3:164225965-164225966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567929465	chr3:164225978-164225979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554703768	chr3:164225980-164225981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530083207	chr3:164226057-164226058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541712149	chr3:164226068-164226069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373443329	chr3:164226088-164226089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560223573	chr3:164226140-164226141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78383240	chr3:164226156-164226157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570759712	chr3:164226197-164226198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539055936	chr3:164232893-164232894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151299236	chr3:164232897-164232898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112913585	chr3:164232898-164232899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs188028744	chr3:164232999-164233000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34775880	chr3:164233015-164233016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375248374	chr3:164233045-164233046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545960714	chr3:164233051-164233052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139428976	chr3:164233079-164233080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs577089120	chr3:164233080-164233081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545405703	chr3:164233103-164233104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558876927	chr3:164233104-164233105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549978671	chr3:164233127-164233128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191239840	chr3:164233134-164233135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12631269	chr3:164233144-164233145	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530595753	chr3:164233195-164233196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550721262	chr3:164233217-164233218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs535555291	chr3:164233219-164233220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570773511	chr3:164233255-164233256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150056365	chr3:164233273-164233274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552605411	chr3:164233284-164233285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566073225	chr3:164233316-164233317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535155541	chr3:164233321-164233322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554747145	chr3:164233330-164233331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183629918	chr3:164233351-164233352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537266196	chr3:164233372-164233373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551529156	chr3:164233377-164233378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537378929	chr3:164239834-164239835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73159370	chr3:164239844-164239845	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577089009	chr3:164239922-164239923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370957006	chr3:164239975-164239976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545491973	chr3:164239977-164239978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs187802140	chr3:164239996-164239997	ZNF genes & repeats	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	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
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164225600-164226000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:164225800-164226200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:164232800-164233400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:164239800-164240200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:164240000-164240400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:164240400-164240600	Weak transcription	Liver	Liver
7	chr3:164241600-164242800	Enhancers	HepG2	liver
8	chr3:164241600-164243000	Enhancers	Liver	Liver

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