Variant report

Variant	nsv963285
Chromosome Location	chr3:160848780-160856433
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	chr3:160838900..160841053-chr3:160850785..160853337,2	MCF-7	breast:
2	chr3:160822974..160825110-chr3:160848106..160849916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169255	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs552181925	chr3:160848816-160848817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373357222	chr3:160848823-160848824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117541713	chr3:160848840-160848841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60121330	chr3:160848861-160848862	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531298017	chr3:160848863-160848864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184900757	chr3:160848876-160848877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111502145	chr3:160848888-160848889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571346978	chr3:160848939-160848940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369488336	chr3:160848973-160848974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547609450	chr3:160848983-160848984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567343910	chr3:160848985-160848986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577998507	chr3:160848986-160848987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34800327	chr3:160849007-160849008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553874808	chr3:160849093-160849094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs731363	chr3:160849094-160849095	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs537269204	chr3:160849099-160849100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576052899	chr3:160849113-160849114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141316383	chr3:160849145-160849146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538678140	chr3:160849186-160849187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558666568	chr3:160849221-160849222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572544802	chr3:160849226-160849227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112356221	chr3:160849239-160849240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561535923	chr3:160849280-160849281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556817927	chr3:160849282-160849283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539604899	chr3:160849326-160849327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370928293	chr3:160849342-160849343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374505125	chr3:160849344-160849345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143218559	chr3:160849387-160849388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370083655	chr3:160849429-160849430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551389108	chr3:160849472-160849473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564716150	chr3:160849482-160849483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200491865	chr3:160849486-160849487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188562885	chr3:160849529-160849530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547128951	chr3:160849543-160849544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567461001	chr3:160849574-160849575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536005536	chr3:160849728-160849729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549546568	chr3:160849795-160849796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367796534	chr3:160849799-160849800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373392410	chr3:160849806-160849807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192282918	chr3:160849984-160849985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558959626	chr3:160849998-160849999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572305473	chr3:160850014-160850015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576285579	chr3:160850040-160850041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140534491	chr3:160850060-160850061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369679520	chr3:160850061-160850062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535129101	chr3:160850075-160850076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12489125	chr3:160850079-160850080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540245526	chr3:160850163-160850164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11289875	chr3:160850239-160850240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397878050	chr3:160850247-160850248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
abnormal development	18461090	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
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160844600-160859000	Weak transcription	Left Ventricle	heart
2	chr3:160850400-160882400	Weak transcription	Ovary	ovary
3	chr3:160853800-160856000	Weak transcription	Lung	lung
4	chr3:160854800-160855800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:160855000-160855600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:160855000-160855800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:160855000-160855800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:160855200-160855600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:160855400-160855800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:160855600-160861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:160856400-160859200	Enhancers	HUVEC	blood vessel

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