Variant report

Variant	nsv461049
Chromosome Location	chr3:191059322-191069984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
2	chr3:191059055..191059627-chr3:191094564..191095535,2	MCF-7	breast:
3	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:
4	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
5	chr3:191059991..191062232-chr3:191093910..191095757,2	MCF-7	breast:
6	chr3:191059352..191062066-chr3:191073918..191075676,3	K562	blood:
7	chr3:191047482..191049844-chr3:191056418..191059474,3	MCF-7	breast:
8	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188958	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1473869	chr3:191059322-191059323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558816342	chr3:191059361-191059362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572255913	chr3:191059439-191059440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541352844	chr3:191059471-191059472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58596458	chr3:191059529-191059530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548935010	chr3:191059600-191059601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567538451	chr3:191059601-191059602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573960137	chr3:191059624-191059625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543048742	chr3:191059654-191059655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562734348	chr3:191059709-191059710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537793643	chr3:191059750-191059751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531859190	chr3:191059813-191059814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545080712	chr3:191059883-191059884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565150724	chr3:191059903-191059904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527847817	chr3:191059944-191059945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75212340	chr3:191059961-191059962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16866491	chr3:191060021-191060022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371388587	chr3:191060032-191060033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35446219	chr3:191060063-191060064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530322158	chr3:191060117-191060118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187235442	chr3:191060142-191060143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569530138	chr3:191060143-191060144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538773876	chr3:191060175-191060176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558652766	chr3:191060177-191060178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576882175	chr3:191060230-191060231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545905630	chr3:191060304-191060305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534763545	chr3:191060316-191060317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554794683	chr3:191060345-191060346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138340216	chr3:191060350-191060351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149631664	chr3:191060351-191060352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556554118	chr3:191060360-191060361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35598202	chr3:191060368-191060369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562511685	chr3:191060427-191060428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144342994	chr3:191060537-191060538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192164164	chr3:191060553-191060554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76898988	chr3:191060610-191060611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs34769036	chr3:191060618-191060619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541271405	chr3:191060625-191060626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561322308	chr3:191060662-191060663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530455633	chr3:191060674-191060675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183431517	chr3:191060693-191060694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563312375	chr3:191060694-191060695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116339797	chr3:191060699-191060700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111275322	chr3:191060703-191060704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552305246	chr3:191060802-191060803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78478307	chr3:191060840-191060841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534702921	chr3:191060862-191060863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548393673	chr3:191060877-191060878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568146091	chr3:191060884-191060885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542086705	chr3:191060899-191060900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
3	chr3:191050200-191060200	Weak transcription	Psoas Muscle	Psoas
4	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:191050600-191060400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:191051200-191060200	Weak transcription	Brain Substantia Nigra	brain
7	chr3:191051400-191059400	Weak transcription	Right Atrium	heart
8	chr3:191051400-191060000	Weak transcription	Brain Germinal Matrix	brain
9	chr3:191051400-191060200	Weak transcription	Brain Anterior Caudate	brain
10	chr3:191051400-191060200	Weak transcription	Right Ventricle	heart
11	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:191055400-191061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:191055600-191062000	Enhancers	HepG2	liver
14	chr3:191056000-191061000	Enhancers	Liver	Liver
15	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
16	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:191056400-191060000	Weak transcription	HSMM	muscle
18	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:191057000-191059800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:191057400-191059400	Weak transcription	NHLF	lung
21	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:191057600-191059400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:191057600-191060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:191057600-191060400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:191057600-191060400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:191057600-191060400	Weak transcription	Primary B cells from cord blood	blood
27	chr3:191057600-191060800	Weak transcription	NH-A	brain
28	chr3:191057800-191059800	Weak transcription	Fetal Lung	lung
29	chr3:191057800-191059800	Weak transcription	Hela-S3	cervix
30	chr3:191057800-191060200	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:191057800-191060400	Weak transcription	NHDF-Ad	bronchial
32	chr3:191057800-191060800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:191057800-191061600	Weak transcription	K562	blood
34	chr3:191057800-191061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:191057800-191062600	Weak transcription	Aorta	Aorta
36	chr3:191058000-191060600	Weak transcription	NHEK	skin
37	chr3:191058200-191059400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:191058200-191060000	Weak transcription	Fetal Brain Female	brain
39	chr3:191058200-191060800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:191058400-191059400	Weak transcription	Fetal Heart	heart
41	chr3:191058400-191061400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:191058600-191061000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:191058600-191061000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:191058600-191061200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:191058800-191060400	Weak transcription	Pancreas	Pancrea
46	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
47	chr3:191059000-191059600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:191059000-191059600	Enhancers	GM12878-XiMat	blood
49	chr3:191059000-191060400	Weak transcription	Left Ventricle	heart
50	chr3:191059000-191060400	Weak transcription	Ovary	ovary

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