Variant report

Variant	nsv962558
Chromosome Location	chr20:13595511-13605918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13601399..13603374-chr20:13617085..13619673,2	MCF-7	breast:
2	chr20:13604911..13607863-chr20:13611443..13613306,2	K562	blood:

Variant related genes	Relation type
ENSG00000089123	chromatin interactions

Extended variants
information (count: 340 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:340 , 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	rs534759927	chr20:13595534-13595535	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184867763	chr20:13595586-13595587	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371993359	chr20:13595591-13595592	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76618124	chr20:13595640-13595641	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559646798	chr20:13595685-13595686	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573072501	chr20:13595733-13595734	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567273365	chr20:13595749-13595750	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367797895	chr20:13595799-13595800	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13045526	chr20:13595807-13595808	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145860803	chr20:13595891-13595892	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530912583	chr20:13595921-13595922	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551101573	chr20:13595948-13595949	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138482635	chr20:13595953-13595954	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547016842	chr20:13595964-13595965	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370088216	chr20:13596044-13596045	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117204658	chr20:13596104-13596105	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371272916	chr20:13596130-13596131	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113423726	chr20:13596155-13596156	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367809645	chr20:13596158-13596159	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75373369	chr20:13596166-13596167	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79828467	chr20:13596167-13596168	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74617417	chr20:13596169-13596170	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189280170	chr20:13596270-13596271	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548916847	chr20:13596341-13596342	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569078492	chr20:13596351-13596352	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537532378	chr20:13596397-13596398	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557866416	chr20:13596405-13596406	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113706843	chr20:13596438-13596439	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180822865	chr20:13596516-13596517	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150197907	chr20:13596517-13596518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573210439	chr20:13596519-13596520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542363550	chr20:13596550-13596551	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562140598	chr20:13596604-13596605	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575837098	chr20:13596614-13596615	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544365649	chr20:13596623-13596624	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538892889	chr20:13596632-13596633	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73270725	chr20:13596637-13596638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116378612	chr20:13596673-13596674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6079122	chr20:13596675-13596676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6042247	chr20:13596681-13596682	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116389983	chr20:13596688-13596689	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529196781	chr20:13596690-13596691	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6042248	chr20:13596720-13596721	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568940890	chr20:13596730-13596731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531559146	chr20:13596731-13596732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372120183	chr20:13596743-13596744	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551161293	chr20:13596796-13596797	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571023210	chr20:13596833-13596834	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574196171	chr20:13596857-13596858	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115032769	chr20:13596877-13596878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
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
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13515000-13605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr20:13526800-13613800	Weak transcription	Hela-S3	cervix
3	chr20:13535600-13608000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:13556200-13618800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr20:13563800-13619000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:13564000-13602600	Weak transcription	Ovary	ovary
7	chr20:13564000-13612400	Weak transcription	Pancreas	Pancrea
8	chr20:13564200-13602400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:13564200-13602800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr20:13564200-13608400	Weak transcription	HSMM	muscle
11	chr20:13567200-13608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:13567200-13618600	Weak transcription	Adipose Nuclei	Adipose
13	chr20:13567400-13597400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:13567400-13602800	Weak transcription	A549	lung
15	chr20:13567400-13606400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr20:13567400-13608400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:13567400-13608400	Weak transcription	HMEC	breast
18	chr20:13567600-13608600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr20:13568000-13608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr20:13568400-13607200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr20:13568800-13602800	Weak transcription	Fetal Intestine Large	intestine
22	chr20:13572000-13607800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr20:13573600-13609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr20:13574200-13606600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:13574400-13606400	Weak transcription	Thymus	Thymus
26	chr20:13574600-13606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:13581000-13595800	Weak transcription	NHEK	skin
28	chr20:13581200-13606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr20:13582000-13603000	Weak transcription	Liver	Liver
30	chr20:13582200-13606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:13582600-13608000	Weak transcription	HSMMtube	muscle
32	chr20:13583200-13602800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr20:13583200-13607200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr20:13583200-13607200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr20:13583400-13607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr20:13583800-13605400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr20:13584000-13617800	Weak transcription	Aorta	Aorta
38	chr20:13585000-13610600	Weak transcription	Psoas Muscle	Psoas
39	chr20:13585200-13602800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr20:13585200-13609000	Weak transcription	Fetal Muscle Leg	muscle
41	chr20:13585600-13606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr20:13586200-13602400	Weak transcription	Fetal Kidney	kidney
43	chr20:13586400-13598600	Weak transcription	Fetal Intestine Small	intestine
44	chr20:13586600-13608600	Weak transcription	GM12878-XiMat	blood
45	chr20:13587000-13597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:13587000-13606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:13587000-13618000	Weak transcription	Fetal Brain Male	brain
48	chr20:13587200-13596400	Weak transcription	Fetal Thymus	thymus
49	chr20:13588000-13618600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr20:13588600-13609200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links