Variant report

Variant	nsv820693
Chromosome Location	chr8:46838946-46857964
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	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:
2	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
3	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:
4	chr8:46850620..46851121-chr9:66823013..66823520,2	MCF-7	breast:
5	chr10:106011870..106012370-chr8:46850618..46851121,2	MCF-7	breast:
6	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:
7	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
8	chr7:61552820..61553340-chr8:46850618..46851139,4	MCF-7	breast:

No data

Extended variants
information (count: 2738 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2738 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202235282	chr8:46839402-46839403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62496541	chr8:46839410-46839411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200428136	chr8:46839415-46839416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201212154	chr8:46839439-46839440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs62496543	chr8:46839442-46839443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62496544	chr8:46839445-46839446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs62496545	chr8:46839446-46839447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201975278	chr8:46839448-46839449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62496546	chr8:46839450-46839451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs370151069	chr8:46839458-46839459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62496547	chr8:46839459-46839460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559462276	chr8:46839461-46839462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62496548	chr8:46839467-46839468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373201193	chr8:46839470-46839471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200609244	chr8:46839471-46839472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573305697	chr8:46839478-46839479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62496549	chr8:46839480-46839481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112414631	chr8:46839482-46839483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62496550	chr8:46839483-46839484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371035510	chr8:46839486-46839487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62496551	chr8:46839489-46839490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62496552	chr8:46839499-46839500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs62496553	chr8:46839503-46839504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201495446	chr8:46839508-46839509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375644960	chr8:46839513-46839514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368274334	chr8:46839514-46839515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371278443	chr8:46839525-46839526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs373890340	chr8:46839527-46839528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562144375	chr8:46839528-46839529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368054385	chr8:46839529-46839530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs113235621	chr8:46839540-46839541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138729555	chr8:46839545-46839546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs530771351	chr8:46839548-46839549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62496555	chr8:46839549-46839550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142993253	chr8:46839551-46839552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150894585	chr8:46839552-46839553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62496556	chr8:46839555-46839556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs4249477	chr8:46839557-46839558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4872949	chr8:46839568-46839569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113268174	chr8:46839572-46839573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564412366	chr8:46839576-46839577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113556563	chr8:46839577-46839578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4357302	chr8:46839587-46839588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs566310487	chr8:46839589-46839590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535414795	chr8:46839591-46839592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140266617	chr8:46839594-46839595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568603885	chr8:46839601-46839602	ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76273449	chr8:46839648-46839649	ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201966673	chr8:46839654-46839655	ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs62496557	chr8:46839655-46839656	ZNF genes & repeats Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD

Chromatin state (count:1020 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46839400-46839800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
2	chr8:46839400-46840000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr8:46839400-46840000	ZNF genes & repeats	Fetal Lung	lung
4	chr8:46839400-46840000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
5	chr8:46839400-46841800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:46839400-46841800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:46839400-46841800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:46839400-46841800	ZNF genes & repeats	Liver	Liver
9	chr8:46839400-46841800	ZNF genes & repeats	Fetal Brain Male	brain
10	chr8:46839400-46841800	ZNF genes & repeats	Fetal Kidney	kidney
11	chr8:46839400-46841800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
12	chr8:46839400-46842200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr8:46839400-46842200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr8:46839400-46842400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr8:46839600-46839800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr8:46839600-46839800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:46839600-46839800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:46839600-46839800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:46839600-46839800	Enhancers	K562	blood
20	chr8:46839600-46839800	Bivalent/Poised TSS	NH-A	brain
21	chr8:46839600-46840000	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr8:46839600-46840000	ZNF genes & repeats	Brain Substantia Nigra	brain
23	chr8:46839600-46840000	ZNF genes & repeats	Right Ventricle	heart
24	chr8:46839600-46840200	ZNF genes & repeats	HepG2	liver
25	chr8:46839600-46841800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr8:46839600-46841800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr8:46839600-46841800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:46839600-46841800	ZNF genes & repeats	Colonic Mucosa	Colon
29	chr8:46839800-46840600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:46839800-46841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:46839800-46841200	Weak transcription	NH-A	brain
32	chr8:46839800-46841600	Weak transcription	K562	blood
33	chr8:46840000-46840800	Weak transcription	Brain Substantia Nigra	brain
34	chr8:46840000-46840800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:46840000-46840800	Weak transcription	Fetal Lung	lung
36	chr8:46840200-46840800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:46840400-46842200	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr8:46840600-46841800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr8:46840600-46842000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
40	chr8:46840800-46841800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr8:46840800-46841800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr8:46840800-46841800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:46840800-46841800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:46840800-46841800	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr8:46840800-46841800	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr8:46840800-46841800	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr8:46840800-46841800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr8:46840800-46841800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr8:46840800-46841800	ZNF genes & repeats	Fetal Lung	lung
50	chr8:46840800-46841800	ZNF genes & repeats	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links