Variant report

Variant	nsv967246
Chromosome Location	chr3:161888119-161939144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 1273 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145087478	chr3:161888131-161888132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13079870	chr3:161888173-161888174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13079902	chr3:161888225-161888226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575938521	chr3:161888236-161888237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544580282	chr3:161888261-161888262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376403937	chr3:161888297-161888298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552621806	chr3:161888322-161888323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138958589	chr3:161888328-161888329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570661674	chr3:161888349-161888350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533374345	chr3:161888370-161888371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189100460	chr3:161888382-161888383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142195528	chr3:161888408-161888409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80048179	chr3:161888417-161888418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1876993	chr3:161888507-161888508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs189820322	chr3:161888509-161888510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182493451	chr3:161888515-161888516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550616925	chr3:161888541-161888542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79784056	chr3:161888543-161888544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539283350	chr3:161888570-161888571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1876994	chr3:161888626-161888627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs577220945	chr3:161888627-161888628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535550884	chr3:161888644-161888645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187073522	chr3:161888650-161888651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146387912	chr3:161888692-161888693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138347367	chr3:161888695-161888696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368351841	chr3:161888700-161888701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575557691	chr3:161888711-161888712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544558304	chr3:161888729-161888730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564646075	chr3:161888735-161888736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs578178285	chr3:161888769-161888770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191883188	chr3:161888783-161888784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560667991	chr3:161888816-161888817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79761439	chr3:161888821-161888822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74957709	chr3:161888850-161888851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561789687	chr3:161888908-161888909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530446675	chr3:161888931-161888932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535375950	chr3:161888932-161888933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550529713	chr3:161888945-161888946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371007177	chr3:161888964-161888965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570690642	chr3:161888990-161888991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533047212	chr3:161888998-161888999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546437112	chr3:161889025-161889026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184937264	chr3:161889064-161889065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535231930	chr3:161889075-161889076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555454420	chr3:161889079-161889080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11714742	chr3:161889084-161889085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569304578	chr3:161889087-161889088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537877630	chr3:161889095-161889096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143885926	chr3:161889170-161889171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11710758	chr3:161889178-161889179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161884600-161888400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:161887200-161888200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:161887800-161888800	Enhancers	NH-A	brain
4	chr3:161888000-161888200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:161888200-161889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:161888400-161888800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:161889800-161890000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:161893000-161894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:161893800-161894600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:161894600-161895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:161910200-161910400	Enhancers	Psoas Muscle	Psoas
12	chr3:161910400-161911600	Enhancers	Fetal Heart	heart
13	chr3:161910600-161911000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:161910800-161911400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:161911000-161911800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:161911000-161912400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:161911600-161913400	Weak transcription	Fetal Heart	heart
19	chr3:161911800-161914400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:161912600-161913600	Enhancers	Psoas Muscle	Psoas
21	chr3:161913000-161913600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:161913000-161913600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:161913400-161913600	Enhancers	Fetal Heart	heart
24	chr3:161914400-161914600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:161914400-161915000	Enhancers	Dnd41	blood
26	chr3:161918400-161920800	Weak transcription	NHDF-Ad	bronchial
27	chr3:161918600-161919200	Enhancers	Fetal Lung	lung
28	chr3:161919000-161919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:161920400-161921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:161920600-161921600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:161920600-161921800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:161920800-161921200	Enhancers	NHDF-Ad	bronchial
33	chr3:161920800-161921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:161921200-161929000	Weak transcription	NHDF-Ad	bronchial
35	chr3:161921600-161922000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:161921600-161922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:161922000-161922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:161922000-161923200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:161923200-161931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:161928200-161928400	Enhancers	Colon Smooth Muscle	Colon
41	chr3:161928600-161929200	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:161929000-161929400	Enhancers	NHDF-Ad	bronchial
43	chr3:161929000-161930000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:161929200-161929400	Enhancers	Colon Smooth Muscle	Colon
45	chr3:161929200-161929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:161929200-161929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:161929400-161934200	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:161929600-161935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:161929800-161935000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:161931400-161932000	Enhancers	Fetal Lung	lung

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