Variant report

Variant	nsv1011376
Chromosome Location	chr3:85599411-85657771
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
2	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
3	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
4	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
5	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
6	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
7	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
8	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
9	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
10	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
11	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:

No data

Extended variants
information (count: 1759 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1759 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528993218	chr3:85609039-85609040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1449377	chr3:85609065-85609066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2167043	chr3:85609072-85609073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2167044	chr3:85609095-85609096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551641064	chr3:85609102-85609103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186804818	chr3:85609190-85609191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570051297	chr3:85609235-85609236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140598270	chr3:85609269-85609270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530807541	chr3:85609274-85609275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549364369	chr3:85609283-85609284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59073108	chr3:85609289-85609290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62250467	chr3:85609303-85609304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553658913	chr3:85609317-85609318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372851472	chr3:85609323-85609324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537790288	chr3:85609348-85609349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539680736	chr3:85609362-85609363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558074547	chr3:85609364-85609365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17459563	chr3:85609365-85609366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72615727	chr3:85609398-85609399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77852438	chr3:85609412-85609413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78288623	chr3:85609413-85609414	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541098652	chr3:85609432-85609433	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559215817	chr3:85609433-85609434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533339103	chr3:85609461-85609462	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545240701	chr3:85609542-85609543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563590849	chr3:85609547-85609548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531122580	chr3:85609620-85609621	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201852176	chr3:85609649-85609650	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549075755	chr3:85609658-85609659	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567675470	chr3:85609662-85609663	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528505858	chr3:85609679-85609680	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111291442	chr3:85609710-85609711	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369226223	chr3:85609723-85609724	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189710455	chr3:85609727-85609728	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539641475	chr3:85609771-85609772	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1449378	chr3:85609795-85609796	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1449379	chr3:85609879-85609880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182547016	chr3:85609895-85609896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186870537	chr3:85609909-85609910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192941232	chr3:85609910-85609911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369508264	chr3:85609940-85609941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185388283	chr3:85609966-85609967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553026716	chr3:85609974-85609975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75403502	chr3:85609980-85609981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556163300	chr3:85610045-85610046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1530738	chr3:85610083-85610084	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1530739	chr3:85610114-85610115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7621463	chr3:85610129-85610130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35789600	chr3:85610141-85610142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543285674	chr3:85610170-85610171	Enhancers Weak transcription	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
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85609000-85609400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:85609000-85610200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:85609000-85610400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:85609000-85610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:85609200-85609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:85609200-85609800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:85609200-85610200	Enhancers	Liver	Liver
8	chr3:85609200-85610400	Enhancers	Brain Angular Gyrus	brain
9	chr3:85609200-85610600	Enhancers	HepG2	liver
10	chr3:85609200-85611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:85609400-85609600	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:85609400-85609800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:85609400-85609800	Enhancers	Brain Hippocampus Middle	brain
14	chr3:85609400-85609800	Enhancers	Pancreas	Pancrea
15	chr3:85609400-85610000	Enhancers	Adipose Nuclei	Adipose
16	chr3:85609400-85610000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:85609600-85609800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:85609800-85610400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:85609800-85610600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:85610200-85610400	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:85610400-85613000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:85610600-85610800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:85613000-85613400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:85616000-85616400	Enhancers	Brain Substantia Nigra	brain
25	chr3:85616400-85621400	Weak transcription	Brain Substantia Nigra	brain
26	chr3:85620800-85621800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:85621000-85621600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:85621200-85622000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:85621400-85621800	Enhancers	Brain Substantia Nigra	brain
30	chr3:85621600-85621800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:85621600-85622000	Enhancers	Adipose Nuclei	Adipose
32	chr3:85621600-85622000	Enhancers	Brain Hippocampus Middle	brain
33	chr3:85621600-85623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:85621800-85623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:85621800-85623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:85621800-85626400	Weak transcription	Brain Substantia Nigra	brain
37	chr3:85622000-85623000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:85622000-85625600	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:85623000-85623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:85623000-85624000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:85623000-85624200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:85623000-85624200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:85623000-85624200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:85623200-85623600	Active TSS	NH-A	brain
45	chr3:85623200-85623800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:85623200-85624400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:85623400-85624200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:85624000-85624200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:85624400-85625400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:85625400-85625600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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