Variant report

Variant	esv17165
Chromosome Location	chr3:163737909-163740820
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	chr3:163738641..163741233-chr3:163742705..163744722,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149730319	chr3:163738635-163738636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571324594	chr3:163738636-163738637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12629562	chr3:163738741-163738742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553568620	chr3:163738749-163738750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573916959	chr3:163738764-163738765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35513417	chr3:163738770-163738771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530535734	chr3:163738853-163738854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192904843	chr3:163738929-163738930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575541114	chr3:163738930-163738931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555809734	chr3:163738946-163738947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548972459	chr3:163738953-163738954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559675075	chr3:163738971-163738972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533486856	chr3:163738975-163738976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34348114	chr3:163738977-163738978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144554016	chr3:163739009-163739010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529537543	chr3:163739042-163739043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549406637	chr3:163739076-163739077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34355574	chr3:163739095-163739096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531164987	chr3:163739100-163739101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551380773	chr3:163739101-163739102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34114597	chr3:163739107-163739108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533629090	chr3:163739134-163739135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547120351	chr3:163739178-163739179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577016627	chr3:163739211-163739212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34301772	chr3:163739218-163739219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536083275	chr3:163739266-163739267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139379797	chr3:163739268-163739269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576288047	chr3:163739304-163739305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185173409	chr3:163739334-163739335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188493172	chr3:163739341-163739342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144156766	chr3:163739377-163739378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75397168	chr3:163739378-163739379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76495211	chr3:163739399-163739400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115239445	chr3:163739412-163739413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146781501	chr3:163739422-163739423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193111715	chr3:163739423-163739424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369691728	chr3:163739439-163739440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529160927	chr3:163739479-163739480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140539170	chr3:163739507-163739508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532049553	chr3:163739521-163739522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551824042	chr3:163739565-163739566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564518486	chr3:163739566-163739567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184590211	chr3:163739575-163739576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547081490	chr3:163739577-163739578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115786707	chr3:163739580-163739581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536013190	chr3:163739589-163739590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142869201	chr3:163739615-163739616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569815383	chr3:163739625-163739626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538908240	chr3:163739662-163739663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539249770	chr3:163739718-163739719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163738600-163739200	Enhancers	Dnd41	blood
2	chr3:163739000-163739400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:163739400-163740400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:163740400-163740600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links