Variant report

Variant	nsv1063422
Chromosome Location	chr20:41095537-41114340
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41098700..41100778-chr20:41109323..41111308,2	MCF-7	breast:
2	chr20:41098700..41100778-chr20:41109323..41111308,2	MCF-7	breast:
3	chr20:41112093..41113034-chr20:41158800..41160071,4	MCF-7	breast:
4	chr20:41095500..41098337-chr20:41104090..41106503,2	MCF-7	breast:
5	chr20:41079653..41081219-chr20:41094623..41097102,2	MCF-7	breast:
6	chr20:41106434..41108888-chr20:41112524..41115086,2	MCF-7	breast:
7	chr20:41111361..41112918-chr20:41159329..41160293,5	MCF-7	breast:
8	chr20:41095500..41098337-chr20:41104090..41106503,2	MCF-7	breast:
9	chr1:115299103..115300612-chr20:41104208..41105960,2	MCF-7	breast:
10	chr20:41112023..41112867-chr20:41307681..41308188,2	MCF-7	breast:
11	chr20:41083008..41085007-chr20:41112917..41114827,2	MCF-7	breast:
12	chr20:41106434..41108888-chr20:41112524..41115086,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000009307	chromatin interactions

Extended variants
information (count: 855 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536625416	chr20:41095553-41095554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556626218	chr20:41095561-41095562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184158809	chr20:41095623-41095624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570122906	chr20:41095639-41095640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34819047	chr20:41095678-41095679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188175579	chr20:41095745-41095746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6030265	chr20:41095755-41095756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138972544	chr20:41095769-41095770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541251189	chr20:41095782-41095783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6072751	chr20:41095831-41095832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554821718	chr20:41095848-41095849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558050611	chr20:41095861-41095862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58682348	chr20:41095877-41095878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6072752	chr20:41095918-41095919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6072753	chr20:41095940-41095941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574829369	chr20:41095941-41095942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62204863	chr20:41096007-41096008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs62204864	chr20:41096016-41096017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532136350	chr20:41096021-41096022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34469990	chr20:41096023-41096024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113292670	chr20:41096069-41096070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62204865	chr20:41096075-41096076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373497471	chr20:41096117-41096118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138215204	chr20:41096119-41096120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548430309	chr20:41096137-41096138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62204866	chr20:41096168-41096169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370624322	chr20:41096171-41096172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530864907	chr20:41096190-41096191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372900933	chr20:41096251-41096252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569912690	chr20:41096254-41096255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116965761	chr20:41096292-41096293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144235020	chr20:41096315-41096316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150339324	chr20:41096367-41096368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558756124	chr20:41096369-41096370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369313311	chr20:41096370-41096371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376045128	chr20:41096374-41096375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548208265	chr20:41096504-41096505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565396918	chr20:41096544-41096545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554783023	chr20:41096584-41096585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6102845	chr20:41096589-41096590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551138791	chr20:41096607-41096608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543660697	chr20:41096611-41096612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557643903	chr20:41096614-41096615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576728676	chr20:41096636-41096637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117561165	chr20:41096739-41096740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559159712	chr20:41096746-41096747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62204867	chr20:41096760-41096761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6030266	chr20:41096782-41096783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs561908338	chr20:41096847-41096848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530736467	chr20:41096848-41096849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41091800-41096800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr20:41092600-41096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:41092800-41097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:41094600-41095800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:41095800-41099200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41096400-41096800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:41096800-41097600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:41097000-41097800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr20:41099000-41099400	Enhancers	Fetal Muscle Leg	muscle
10	chr20:41099000-41102800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:41099200-41099400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:41099400-41101200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr20:41099400-41112400	Weak transcription	Fetal Muscle Leg	muscle
14	chr20:41099600-41102200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr20:41101200-41102800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:41102200-41104200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr20:41102800-41103400	Enhancers	Fetal Thymus	thymus
18	chr20:41102800-41104200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:41102800-41104800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:41103000-41103600	Enhancers	Brain Germinal Matrix	brain
21	chr20:41103000-41103600	Enhancers	Fetal Muscle Trunk	muscle
22	chr20:41103000-41103600	Enhancers	Gastric	stomach
23	chr20:41103600-41105600	Weak transcription	Gastric	stomach
24	chr20:41104200-41105800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr20:41105600-41106400	Enhancers	Gastric	stomach
26	chr20:41105800-41106000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr20:41111800-41113600	Enhancers	Fetal Brain Male	brain
28	chr20:41112000-41116200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr20:41112200-41112400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr20:41112200-41113400	Enhancers	Adipose Nuclei	Adipose
31	chr20:41112200-41113600	Enhancers	Brain Substantia Nigra	brain
32	chr20:41112200-41113600	Enhancers	Right Atrium	heart
33	chr20:41112200-41113800	Enhancers	Fetal Muscle Trunk	muscle
34	chr20:41112200-41114000	Enhancers	Brain Hippocampus Middle	brain
35	chr20:41112400-41112600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr20:41112400-41112600	Enhancers	Left Ventricle	heart
37	chr20:41112400-41112600	Enhancers	Lung	lung
38	chr20:41112400-41112600	Enhancers	Pancreas	Pancrea
39	chr20:41112400-41112800	Enhancers	Brain Germinal Matrix	brain
40	chr20:41112400-41113400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:41112400-41113400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr20:41112400-41113600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr20:41112400-41114000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr20:41112400-41114400	Enhancers	Fetal Muscle Leg	muscle
45	chr20:41112400-41115200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr20:41112600-41113000	Active TSS	Brain Angular Gyrus	brain
47	chr20:41112600-41113200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr20:41112600-41113400	Weak transcription	Pancreas	Pancrea
49	chr20:41112600-41113600	Weak transcription	Left Ventricle	heart
50	chr20:41112600-41113800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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