Variant report

Variant	nsv912665
Chromosome Location	chr20:11037154-11086830
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	chr20:11074114..11076732-chr20:11078633..11080781,2	MCF-7	breast:
2	chr20:11074114..11076732-chr20:11078633..11080781,2	MCF-7	breast:
3	chr20:11077312..11079727-chr20:11084540..11087142,2	MCF-7	breast:
4	chr20:10654030..10656836-chr20:11048324..11050981,2	MCF-7	breast:
5	chr20:11085788..11088640-chr20:11089666..11092224,2	MCF-7	breast:
6	chr20:11085811..11088633-chr20:11110343..11113132,2	MCF-7	breast:
7	chr20:11079357..11080270-chr20:11254391..11255324,2	MCF-7	breast:
8	chr20:11077312..11079727-chr20:11084540..11087142,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101384	chromatin interactions

Extended variants
information (count: 1862 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1862 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6078029	chr20:11037154-11037155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377639220	chr20:11037158-11037159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149176576	chr20:11037170-11037171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549576514	chr20:11037175-11037176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569367474	chr20:11037220-11037221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114090917	chr20:11037223-11037224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184901269	chr20:11037228-11037229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576414909	chr20:11037256-11037257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs209949	chr20:11037261-11037262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533893689	chr20:11037286-11037287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552890143	chr20:11037292-11037293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572797946	chr20:11037379-11037380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143295721	chr20:11037380-11037381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555260009	chr20:11037397-11037398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575363117	chr20:11037403-11037404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190782320	chr20:11037414-11037415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564166321	chr20:11037430-11037431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532995000	chr20:11037433-11037434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540228162	chr20:11037440-11037441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148313423	chr20:11037449-11037450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74665397	chr20:11037559-11037560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549662329	chr20:11037571-11037572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76780657	chr20:11037610-11037611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7351879	chr20:11037619-11037620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183020668	chr20:11037639-11037640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551595690	chr20:11037656-11037657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377030563	chr20:11037674-11037675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571705632	chr20:11037681-11037682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533979022	chr20:11037781-11037782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571759293	chr20:11037806-11037807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553730845	chr20:11037811-11037812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566467757	chr20:11037822-11037823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373177901	chr20:11037856-11037857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535377838	chr20:11037870-11037871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555609848	chr20:11037873-11037874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145621265	chr20:11037885-11037886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74932191	chr20:11037932-11037933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557611051	chr20:11037933-11037934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73253388	chr20:11037963-11037964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376499423	chr20:11038023-11038024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138495446	chr20:11038039-11038040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560205744	chr20:11038054-11038055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541351127	chr20:11038081-11038082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528865838	chr20:11038085-11038086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77298177	chr20:11038091-11038092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563157287	chr20:11038093-11038094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188679100	chr20:11038130-11038131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192374554	chr20:11038136-11038137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116668896	chr20:11038141-11038142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183295170	chr20:11038304-11038305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11032200-11038200	Weak transcription	Adipose Nuclei	Adipose
2	chr20:11037000-11037400	Enhancers	Fetal Kidney	kidney
3	chr20:11037400-11041400	Weak transcription	Fetal Kidney	kidney
4	chr20:11037800-11039000	Weak transcription	Pancreas	Pancrea
5	chr20:11038000-11039000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:11038200-11039600	Enhancers	Adipose Nuclei	Adipose
7	chr20:11039000-11040000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:11039000-11040000	Enhancers	Pancreas	Pancrea
9	chr20:11040000-11041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:11040800-11041400	Enhancers	Fetal Intestine Small	intestine
11	chr20:11040800-11041400	Enhancers	Small Intestine	intestine
12	chr20:11041200-11041800	Enhancers	Fetal Lung	lung
13	chr20:11041200-11043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:11041200-11043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:11041400-11041800	Enhancers	HUVEC	blood vessel
16	chr20:11041400-11042200	Enhancers	Fetal Kidney	kidney
17	chr20:11043000-11043400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:11043000-11043400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr20:11043000-11044600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr20:11043000-11044800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr20:11043200-11043600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:11044000-11044200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr20:11044000-11046600	Enhancers	Fetal Heart	heart
24	chr20:11044000-11061600	Weak transcription	Left Ventricle	heart
25	chr20:11044400-11045400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr20:11045400-11045800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr20:11045800-11047800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:11045800-11049200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr20:11046600-11047400	Flanking Active TSS	Fetal Heart	heart
30	chr20:11047000-11047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr20:11047200-11048200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr20:11047400-11049400	Enhancers	Fetal Heart	heart
33	chr20:11047800-11048800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr20:11048000-11048400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr20:11048000-11048400	Enhancers	NHDF-Ad	bronchial
36	chr20:11048200-11049400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:11053000-11053600	Enhancers	Aorta	Aorta
38	chr20:11053400-11053800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr20:11053800-11057200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr20:11055200-11055400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr20:11055600-11063800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr20:11056000-11056200	Enhancers	Right Atrium	heart
43	chr20:11056000-11057800	Enhancers	Brain Germinal Matrix	brain
44	chr20:11056200-11056800	Weak transcription	Right Atrium	heart
45	chr20:11056800-11057000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:11056800-11057200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr20:11056800-11057200	Enhancers	Fetal Brain Male	brain
48	chr20:11056800-11057400	Enhancers	Right Atrium	heart
49	chr20:11057000-11057400	Enhancers	Fetal Lung	lung
50	chr20:11057000-11057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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