Variant report

Variant	nsv963523
Chromosome Location	chr3:81698115-81702818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr3:81698338-81698741	MCF10A-Er-Src	breast:	n/a	chr3:81698605-81698614
2	POLR2A	chr3:81702788-81703137	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:81702480-81702542	ProgFib	skin:	n/a	n/a
4	POLR2A	chr3:81700463-81700543	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:81699856-81699978	A549	lung:	n/a	n/a
6	POLR2A	chr3:81702049-81702148	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:81699332-81699344	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:81701165-81701335	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:81701005-81701201	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:81699893-81699905	MCF-7	breast:	n/a	n/a
11	POLR2A	chr3:81698356-81698506	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr3:81698244-81698377	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81702517..81704180-chr3:81809893..81811884,2	K562	blood:

Variant related genes	Relation type
GBE1	TF binding region
ENSG00000114480	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371086146	chr3:81698115-81698116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17019144	chr3:81698119-81698120	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2229519	chr3:81698130-81698131	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377175400	chr3:81698146-81698147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371448838	chr3:81698164-81698165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150691839	chr3:81698261-81698262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142296461	chr3:81698288-81698289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183205970	chr3:81698320-81698321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565639831	chr3:81698343-81698344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188270263	chr3:81698369-81698370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373819731	chr3:81698396-81698397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140338543	chr3:81698428-81698429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542993171	chr3:81698433-81698434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556862195	chr3:81698472-81698473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3772912	chr3:81698481-81698482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs545692054	chr3:81698482-81698483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35136298	chr3:81698527-81698528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139019668	chr3:81698530-81698531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544342065	chr3:81698531-81698532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192589561	chr3:81698579-81698580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528262624	chr3:81698580-81698581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541569579	chr3:81698658-81698659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575626945	chr3:81698663-81698664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3836326	chr3:81698664-81698665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398106096	chr3:81698673-81698674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144186229	chr3:81698687-81698688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530138872	chr3:81698699-81698700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147345102	chr3:81698737-81698738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371535939	chr3:81698742-81698743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184575850	chr3:81698762-81698763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532793055	chr3:81698791-81698792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188212639	chr3:81698817-81698818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566305770	chr3:81698834-81698835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534873761	chr3:81698863-81698864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200991885	chr3:81698894-81698895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375256741	chr3:81698902-81698903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368031975	chr3:81698925-81698926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370410694	chr3:81698927-81698928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573234623	chr3:81698933-81698934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571116428	chr3:81698975-81698976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554273784	chr3:81698976-81698977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567790853	chr3:81699000-81699001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376546162	chr3:81699006-81699007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369676236	chr3:81699025-81699026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374404487	chr3:81699035-81699036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139575798	chr3:81699133-81699134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375900443	chr3:81699259-81699260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192634370	chr3:81699281-81699282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556877090	chr3:81699288-81699289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577068238	chr3:81699321-81699322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81603600-81726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:81613600-81699200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:81627400-81755000	Weak transcription	Primary B cells from cord blood	blood
4	chr3:81635000-81700800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:81642000-81753000	Weak transcription	HUVEC	blood vessel
6	chr3:81642200-81712200	Weak transcription	Ovary	ovary
7	chr3:81662200-81699800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:81662200-81703000	Weak transcription	HSMMtube	muscle
9	chr3:81675600-81699600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:81678600-81701600	Strong transcription	Dnd41	blood
11	chr3:81680600-81698200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:81680600-81703000	Weak transcription	Hela-S3	cervix
13	chr3:81681200-81699600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:81682400-81706600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:81683400-81699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:81684400-81712400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:81686600-81699000	Weak transcription	NHLF	lung
18	chr3:81687400-81700600	Weak transcription	NH-A	brain
19	chr3:81688000-81699200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:81689000-81712200	Weak transcription	Lung	lung
21	chr3:81689600-81699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:81689600-81699800	Weak transcription	Psoas Muscle	Psoas
23	chr3:81689600-81712200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:81689600-81726200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:81689600-81744000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:81689800-81744000	Weak transcription	Right Ventricle	heart
27	chr3:81693000-81700400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:81693000-81726800	Weak transcription	GM12878-XiMat	blood
29	chr3:81693200-81700600	Weak transcription	Primary T cells from cord blood	blood
30	chr3:81694000-81707800	Weak transcription	HepG2	liver
31	chr3:81695200-81700000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:81695200-81748000	Weak transcription	Aorta	Aorta
33	chr3:81695400-81698400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:81695400-81699800	Weak transcription	Left Ventricle	heart
35	chr3:81695400-81700400	Weak transcription	Fetal Heart	heart
36	chr3:81695400-81733800	Weak transcription	HSMM	muscle
37	chr3:81695400-81746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:81695600-81698800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:81695600-81728400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:81696600-81699200	Strong transcription	NHDF-Ad	bronchial
41	chr3:81697000-81699200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:81697800-81698200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:81697800-81699400	Strong transcription	Liver	Liver
44	chr3:81698200-81699200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:81698200-81700400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:81698400-81699200	Strong transcription	Adipose Nuclei	Adipose
47	chr3:81698800-81699200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:81699000-81699400	Strong transcription	NHLF	lung
49	chr3:81699000-81699600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:81699000-81700400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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