Variant report

Variant	nsv980025
Chromosome Location	chr3:158645279-158654071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158604339..158606646-chr3:158644177..158645762,2	K562	blood:
2	chr3:158646906..158649807-chr3:158661068..158663651,2	MCF-7	breast:
3	chr3:158641564..158643085-chr3:158646144..158647797,2	MCF-7	breast:
4	chr3:158643078..158644772-chr3:158645233..158648041,2	K562	blood:
5	chr3:158634871..158637670-chr3:158645869..158648578,2	MCF-7	breast:

Extended variants
information (count: 342 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577063331	chr3:158645283-158645284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544183803	chr3:158645316-158645317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562663785	chr3:158645325-158645326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs148812802	chr3:158645551-158645552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114438851	chr3:158645555-158645556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529856988	chr3:158645596-158645597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373409649	chr3:158645630-158645631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550931118	chr3:158645693-158645694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559720288	chr3:158645728-158645729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527355930	chr3:158645741-158645742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549051258	chr3:158645837-158645838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567295355	chr3:158645843-158645844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58490439	chr3:158645844-158645845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542686703	chr3:158645874-158645875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561025647	chr3:158645885-158645886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551232404	chr3:158645939-158645940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569538435	chr3:158645949-158645950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540158841	chr3:158645964-158645965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558139701	chr3:158646039-158646040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs340298	chr3:158646045-158646046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189528194	chr3:158646123-158646124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs340297	chr3:158646151-158646152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs180773344	chr3:158646163-158646164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550928264	chr3:158646168-158646169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543966689	chr3:158646185-158646186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186010294	chr3:158646191-158646192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12696089	chr3:158646220-158646221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111850428	chr3:158646234-158646235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143446937	chr3:158646238-158646239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138462656	chr3:158646249-158646250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560056384	chr3:158646283-158646284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527274021	chr3:158646315-158646316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374037230	chr3:158646327-158646328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73874751	chr3:158646364-158646365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143076631	chr3:158646372-158646373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548561876	chr3:158646462-158646463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531323991	chr3:158646467-158646468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551168426	chr3:158646468-158646469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569478092	chr3:158646478-158646479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540100445	chr3:158646487-158646488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532799152	chr3:158646507-158646508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78087441	chr3:158646548-158646549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77755275	chr3:158646557-158646558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571611761	chr3:158646558-158646559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192088872	chr3:158646571-158646572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75573411	chr3:158646636-158646637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537949278	chr3:158646695-158646696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555899415	chr3:158646765-158646766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577405112	chr3:158646855-158646856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544849501	chr3:158646859-158646860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158638600-158653200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:158642600-158645800	Weak transcription	Left Ventricle	heart
3	chr3:158643600-158646200	Weak transcription	Right Ventricle	heart
4	chr3:158645000-158645400	ZNF genes & repeats	Aorta	Aorta
5	chr3:158645400-158651200	Weak transcription	Aorta	Aorta
6	chr3:158651000-158651400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:158651400-158651600	Enhancers	Spleen	Spleen
8	chr3:158651400-158653600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:158652600-158654400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:158653200-158654200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:158653200-158654600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:158653400-158654600	Enhancers	HMEC	breast
13	chr3:158653600-158654600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:158653600-158654600	Enhancers	HSMM	muscle
15	chr3:158653600-158654800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:158653600-158655000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:158653600-158655000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:158653600-158655000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:158653600-158655200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:158653600-158655400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:158653800-158654000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:158653800-158655000	Enhancers	NHEK	skin

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