Variant report

Variant	nsv461053
Chromosome Location	chr3:191060954-191069984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000188958	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1473868	chr3:191060954-191060955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1473867	chr3:191060985-191060986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114205812	chr3:191060997-191060998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190417378	chr3:191061024-191061025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541108031	chr3:191061038-191061039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111290832	chr3:191061063-191061064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573472389	chr3:191061151-191061152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574902306	chr3:191061164-191061165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576154094	chr3:191061173-191061174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544116581	chr3:191061209-191061210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1473866	chr3:191061214-191061215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73888564	chr3:191061287-191061288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552248356	chr3:191061291-191061292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559368976	chr3:191061350-191061351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528230658	chr3:191061351-191061352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547942351	chr3:191061454-191061455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115948330	chr3:191061481-191061482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78115576	chr3:191061541-191061542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550860274	chr3:191061583-191061584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182676694	chr3:191061602-191061603	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186910429	chr3:191061618-191061619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558558683	chr3:191061639-191061640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572094327	chr3:191061646-191061647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535135128	chr3:191061656-191061657	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144065496	chr3:191061793-191061794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574980935	chr3:191061848-191061849	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543612949	chr3:191061911-191061912	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368463035	chr3:191061920-191061921	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533017036	chr3:191061949-191061950	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78089327	chr3:191061950-191061951	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372078806	chr3:191062055-191062056	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577638126	chr3:191062064-191062065	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192261905	chr3:191062067-191062068	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559405624	chr3:191062079-191062080	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9860740	chr3:191062080-191062081	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541908958	chr3:191062087-191062088	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561586438	chr3:191062102-191062103	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112969629	chr3:191062103-191062104	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530617340	chr3:191062229-191062230	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550551275	chr3:191062334-191062335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113570154	chr3:191062360-191062361	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371860207	chr3:191062361-191062362	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561592234	chr3:191062364-191062365	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376114379	chr3:191062383-191062384	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12636482	chr3:191062391-191062392	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533093751	chr3:191062398-191062399	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7640087	chr3:191062399-191062400	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12636442	chr3:191062408-191062409	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145964278	chr3:191062420-191062421	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555056408	chr3:191062482-191062483	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
2	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:191055400-191061800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:191055600-191062000	Enhancers	HepG2	liver
6	chr3:191056000-191061000	Enhancers	Liver	Liver
7	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
8	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:191057800-191061600	Weak transcription	K562	blood
12	chr3:191057800-191061800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:191057800-191062600	Weak transcription	Aorta	Aorta
14	chr3:191058400-191061400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:191058600-191061000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:191058600-191061000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr3:191058600-191061200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
19	chr3:191059200-191061000	Enhancers	A549	lung
20	chr3:191059200-191061400	Enhancers	HUVEC	blood vessel
21	chr3:191059200-191061600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:191059200-191061800	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:191059200-191062200	Enhancers	Osteobl	bone
26	chr3:191059200-191063400	Enhancers	Adipose Nuclei	Adipose
27	chr3:191059400-191061000	Enhancers	Right Atrium	heart
28	chr3:191059400-191061200	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:191059400-191062000	Enhancers	NHLF	lung
30	chr3:191059400-191062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:191059400-191063600	Enhancers	Fetal Heart	heart
32	chr3:191059600-191062600	Weak transcription	GM12878-XiMat	blood
33	chr3:191059600-191062800	Weak transcription	Small Intestine	intestine
34	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:191059800-191061600	Enhancers	Hela-S3	cervix
36	chr3:191059800-191062000	Enhancers	Fetal Lung	lung
37	chr3:191060000-191061200	Enhancers	Brain Germinal Matrix	brain
38	chr3:191060000-191061600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:191060000-191062000	Enhancers	HSMM	muscle
40	chr3:191060000-191062200	Enhancers	Fetal Brain Female	brain
41	chr3:191060200-191061000	Enhancers	Psoas Muscle	Psoas
42	chr3:191060200-191061200	Enhancers	Brain Hippocampus Middle	brain
43	chr3:191060200-191061200	Enhancers	Brain Substantia Nigra	brain
44	chr3:191060200-191061200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr3:191060400-191061000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:191060400-191061000	Enhancers	Left Ventricle	heart
47	chr3:191060400-191061000	Enhancers	Ovary	ovary
48	chr3:191060400-191061000	Enhancers	Pancreas	Pancrea
49	chr3:191060400-191061800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr3:191060400-191062000	Enhancers	NHDF-Ad	bronchial

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