Variant report

Variant	nsv1058629
Chromosome Location	chr20:15211386-15252831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15222565..15225391-chr20:15228675..15231649,2	MCF-7	breast:
2	chr20:15222565..15225391-chr20:15228675..15231649,2	MCF-7	breast:
3	chr20:14857662..14859546-chr20:15214980..15217486,2	MCF-7	breast:
4	chr20:15213744..15214594-chr5:107680986..107681674,2	MCF-7	breast:
5	chr20:14316387..14318274-chr20:15215878..15217670,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125848	chromatin interactions

Extended variants
information (count: 1152 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1152 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6131652	chr20:15211513-15211514	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs542666133	chr20:15211537-15211538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12481606	chr20:15211565-15211566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561155703	chr20:15211587-15211588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573093284	chr20:15211607-15211608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550339527	chr20:15211619-15211620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113839012	chr20:15211625-15211626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540572952	chr20:15211690-15211691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147235130	chr20:15211697-15211698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532825682	chr20:15211712-15211713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551374792	chr20:15211716-15211717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35155489	chr20:15211815-15211816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192999560	chr20:15211817-15211818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549086973	chr20:15211857-15211858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114317690	chr20:15211858-15211859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534786859	chr20:15211913-15211914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546948550	chr20:15211964-15211965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571531672	chr20:15212006-15212007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538528166	chr20:15212008-15212009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs175286	chr20:15212033-15212034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575508793	chr20:15212106-15212107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536388525	chr20:15212114-15212115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148748720	chr20:15212131-15212132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573129565	chr20:15212136-15212137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183584447	chr20:15212140-15212141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73615571	chr20:15212229-15212230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115445994	chr20:15212282-15212283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78112795	chr20:15212322-15212323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188126994	chr20:15212333-15212334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563333227	chr20:15212343-15212344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373817519	chr20:15212368-15212369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542769982	chr20:15212475-15212476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560948693	chr20:15212501-15212502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528157525	chr20:15212515-15212516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546795357	chr20:15212565-15212566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191842740	chr20:15212620-15212621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183974848	chr20:15212656-15212657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550592085	chr20:15212685-15212686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367674028	chr20:15212687-15212688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs175287	chr20:15212710-15212711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536224991	chr20:15212747-15212748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8121711	chr20:15212780-15212781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554680505	chr20:15212781-15212782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76166911	chr20:15212783-15212784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534004203	chr20:15212797-15212798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572188231	chr20:15212901-15212902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141452379	chr20:15212921-15212922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537192912	chr20:15212925-15212926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369905914	chr20:15212927-15212928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150844540	chr20:15212937-15212938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15202200-15217400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:15212200-15213800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr20:15215800-15217800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:15216000-15217000	Enhancers	Fetal Brain Male	brain
5	chr20:15216000-15217400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:15217000-15217800	Enhancers	A549	lung
7	chr20:15217200-15218000	Enhancers	HMEC	breast
8	chr20:15217200-15218200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:15217400-15217800	Enhancers	NHEK	skin
10	chr20:15217400-15218000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:15217600-15217800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:15217600-15218000	Enhancers	GM12878-XiMat	blood
13	chr20:15217800-15226400	Weak transcription	NHEK	skin
14	chr20:15218000-15220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:15218000-15223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:15218000-15226400	Weak transcription	HMEC	breast
17	chr20:15218200-15218600	Enhancers	Fetal Heart	heart
18	chr20:15218200-15222400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:15220400-15220600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr20:15220600-15221400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:15221400-15221600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr20:15221400-15221600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr20:15221600-15222400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr20:15221600-15222600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr20:15222000-15223200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr20:15222000-15223200	Enhancers	NH-A	brain
27	chr20:15222400-15222600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:15222400-15223000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:15222600-15223000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr20:15222600-15223600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr20:15223600-15224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:15224000-15226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:15225000-15225400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:15225400-15226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:15226200-15227000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:15226400-15227000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:15226400-15227000	Enhancers	NHEK	skin
38	chr20:15226400-15227200	Enhancers	HMEC	breast
39	chr20:15226800-15227000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:15227000-15229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:15227200-15229600	Weak transcription	HMEC	breast
42	chr20:15228600-15229000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr20:15228600-15229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr20:15228800-15229000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:15228800-15229200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr20:15228800-15229400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr20:15228800-15229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr20:15228800-15229800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr20:15228800-15229800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr20:15229000-15229600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links