Variant report

Variant	nsv967245
Chromosome Location	chr3:160772823-160779146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160770517..160774419-chr3:160776839..160778758,3	MCF-7	breast:
2	chr3:160778138..160780408-chr3:160781203..160783846,3	MCF-7	breast:
3	chr3:160770517..160774419-chr3:160776839..160778758,3	MCF-7	breast:
4	chr3:160778095..160780488-chr3:160782527..160784697,2	K562	blood:
5	chr3:160776732..160778669-chr3:160784922..160787021,2	MCF-7	breast:

Extended variants
information (count: 202 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs568186480	chr3:160772826-160772827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs898680	chr3:160772853-160772854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181923476	chr3:160772856-160772857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577223850	chr3:160772860-160772861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113390193	chr3:160772996-160772997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78465543	chr3:160773006-160773007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs186411396	chr3:160773097-160773098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs898681	chr3:160773098-160773099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542218617	chr3:160773110-160773111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561725055	chr3:160773121-160773122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs898682	chr3:160773133-160773134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs143910801	chr3:160773159-160773160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371900830	chr3:160773178-160773179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564525911	chr3:160773252-160773253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116694000	chr3:160773279-160773280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189085904	chr3:160773282-160773283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546076535	chr3:160773294-160773295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73875446	chr3:160773304-160773305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140929124	chr3:160773365-160773366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548239495	chr3:160773392-160773393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568022622	chr3:160773490-160773491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376623206	chr3:160773504-160773505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150384349	chr3:160773509-160773510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60422515	chr3:160773525-160773526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540129714	chr3:160773562-160773563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570564872	chr3:160773575-160773576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61132828	chr3:160773611-160773612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539662528	chr3:160773624-160773625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138126955	chr3:160773634-160773635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566786077	chr3:160773654-160773655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564959291	chr3:160773659-160773660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181079971	chr3:160773667-160773668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs881453	chr3:160773701-160773702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116848166	chr3:160773764-160773765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373073276	chr3:160773786-160773787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142605649	chr3:160773852-160773853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540847357	chr3:160773907-160773908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560502554	chr3:160773934-160773935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529627451	chr3:160774095-160774096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543314378	chr3:160774132-160774133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373108453	chr3:160774147-160774148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561672650	chr3:160774157-160774158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186315148	chr3:160774170-160774171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78132172	chr3:160774172-160774173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113867157	chr3:160774210-160774211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532866014	chr3:160774227-160774228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183238654	chr3:160774235-160774236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186176946	chr3:160774238-160774239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16831830	chr3:160774244-160774245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190885795	chr3:160774325-160774326	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160745200-160782600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:160768000-160778000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:160768000-160786400	Weak transcription	Left Ventricle	heart
4	chr3:160771000-160783200	Weak transcription	Fetal Brain Female	brain
5	chr3:160772000-160784200	Weak transcription	Primary B cells from cord blood	blood
6	chr3:160772800-160773200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:160772800-160773400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:160772800-160773600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:160773000-160773200	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:160773000-160773400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:160773200-160786800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:160773400-160773600	Enhancers	Gastric	stomach
13	chr3:160773400-160773800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:160773600-160773800	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:160773600-160785600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:160773800-160787200	Weak transcription	Gastric	stomach
17	chr3:160775800-160782600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:160776000-160787200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:160777000-160777200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:160777200-160787800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:160777600-160778200	Enhancers	Esophagus	oesophagus
22	chr3:160778000-160778200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:160778000-160778200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:160778200-160782600	Weak transcription	Esophagus	oesophagus
25	chr3:160778200-160786400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:160778400-160780600	Weak transcription	Fetal Brain Male	brain

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