Variant report

Variant	nsv965199
Chromosome Location	chr3:112647810-112648310
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	chr3:112647132..112647952-chr6:50369649..50370552,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9826308	chr3:112647832-112647833	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377071470	chr3:112647836-112647837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201051709	chr3:112647859-112647860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143930780	chr3:112647865-112647866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200448544	chr3:112647875-112647876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368637502	chr3:112647905-112647906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200155243	chr3:112647943-112647944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375863998	chr3:112647944-112647945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368914981	chr3:112647962-112647963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9868053	chr3:112647988-112647989	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190743198	chr3:112647989-112647990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369167653	chr3:112648002-112648003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201520568	chr3:112648018-112648019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376207578	chr3:112648033-112648034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199501896	chr3:112648046-112648047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550063106	chr3:112648061-112648062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373257099	chr3:112648107-112648108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146577171	chr3:112648111-112648112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71625219	chr3:112648125-112648126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113267312	chr3:112648126-112648127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199845196	chr3:112648127-112648128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144544564	chr3:112648129-112648130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183699266	chr3:112648144-112648145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201554281	chr3:112648157-112648158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188572017	chr3:112648174-112648175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373339414	chr3:112648192-112648193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191804516	chr3:112648209-112648210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2171509	chr3:112648222-112648223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377013891	chr3:112648268-112648269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141776280	chr3:112648269-112648270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139821623	chr3:112648295-112648296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560630785	chr3:112648296-112648297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143135825	chr3:112648298-112648299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112633400-112650800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:112635400-112650600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:112635600-112650400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:112638800-112650400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:112639400-112650400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:112640200-112650800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:112642000-112648000	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:112642400-112650400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:112642600-112650600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:112642800-112649600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:112643600-112648400	Strong transcription	Primary T cells from cord blood	blood
12	chr3:112645000-112650000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:112645200-112650600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:112645600-112650800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:112646000-112648400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:112646000-112650000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:112646000-112650800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:112646200-112649000	Weak transcription	GM12878-XiMat	blood
19	chr3:112647600-112648200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:112647600-112648200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:112647800-112651400	Weak transcription	Esophagus	oesophagus
22	chr3:112648000-112650400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:112648200-112650800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:112648200-112650800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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