Variant report

Variant	esv3447058
Chromosome Location	chr20:23631152-23633850
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	chr20:23624045..23625707-chr20:23633322..23636030,2	MCF-7	breast:
2	chr20:23619975..23621824-chr20:23630879..23635181,3	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559972323	chr20:23631176-23631177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367585956	chr20:23631193-23631194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371503104	chr20:23631226-23631227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184478866	chr20:23631245-23631246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138024529	chr20:23631271-23631272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189567337	chr20:23631283-23631284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56760113	chr20:23631288-23631289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376870142	chr20:23631289-23631290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548020732	chr20:23631297-23631298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376976910	chr20:23631309-23631310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79894333	chr20:23631311-23631312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60719851	chr20:23631321-23631322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575185820	chr20:23631325-23631326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553819697	chr20:23631327-23631328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75027769	chr20:23631333-23631334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368192839	chr20:23631342-23631343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6083208	chr20:23631351-23631352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577585507	chr20:23631360-23631361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142621322	chr20:23631363-23631364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181107713	chr20:23631366-23631367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549819907	chr20:23631380-23631381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576603036	chr20:23631392-23631393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542308262	chr20:23631394-23631395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561997612	chr20:23631408-23631409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572220087	chr20:23631463-23631464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6036481	chr20:23631496-23631497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs55656752	chr20:23631510-23631511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs112213361	chr20:23631523-23631524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113794502	chr20:23631539-23631540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148544867	chr20:23631552-23631553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531452018	chr20:23631554-23631555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142922600	chr20:23631562-23631563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73102363	chr20:23631599-23631600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73102364	chr20:23631602-23631603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147707393	chr20:23631628-23631629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73102366	chr20:23631654-23631655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186391675	chr20:23631655-23631656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11698624	chr20:23631725-23631726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190909128	chr20:23631750-23631751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570335115	chr20:23631760-23631761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140930951	chr20:23631766-23631767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144898133	chr20:23631802-23631803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180971298	chr20:23631803-23631804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541153247	chr20:23631829-23631830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557712674	chr20:23631839-23631840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141057374	chr20:23632048-23632049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200459539	chr20:23632049-23632050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201718728	chr20:23632051-23632052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201093707	chr20:23632053-23632054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62208871	chr20:23632090-23632091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23622200-23636600	Weak transcription	Pancreas	Pancrea
2	chr20:23622800-23640000	Weak transcription	Stomach Mucosa	stomach
3	chr20:23623000-23634200	Weak transcription	Right Atrium	heart
4	chr20:23623200-23636200	Weak transcription	Lung	lung
5	chr20:23624200-23633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr20:23624600-23633000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr20:23627600-23633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:23627600-23633000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:23627600-23633400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr20:23628200-23633400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23628200-23633600	Weak transcription	Fetal Thymus	thymus
12	chr20:23628200-23638000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:23628600-23633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:23630000-23631400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:23630200-23631800	Enhancers	HepG2	liver
16	chr20:23631000-23633000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr20:23631400-23633000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr20:23631800-23633000	Weak transcription	HepG2	liver
19	chr20:23631800-23633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr20:23632400-23633000	Weak transcription	HMEC	breast
21	chr20:23633000-23633200	Enhancers	Brain Hippocampus Middle	brain
22	chr20:23633000-23633400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr20:23633000-23633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:23633000-23633800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:23633000-23633800	Enhancers	Osteobl	bone
26	chr20:23633000-23634200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr20:23633000-23635000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:23633000-23635200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:23633000-23636400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr20:23633000-23636600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr20:23633000-23637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr20:23633000-23639400	Enhancers	HepG2	liver
33	chr20:23633200-23633400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr20:23633200-23634000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr20:23633200-23634800	Enhancers	Brain Cingulate Gyrus	brain
36	chr20:23633200-23635000	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr20:23633200-23635000	Enhancers	HMEC	breast
38	chr20:23633200-23635400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:23633200-23636200	Enhancers	Brain Substantia Nigra	brain
40	chr20:23633400-23633600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr20:23633400-23633600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr20:23633400-23633600	Enhancers	HSMM	muscle
43	chr20:23633400-23634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr20:23633400-23634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr20:23633400-23635200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:23633400-23636000	Enhancers	Adipose Nuclei	Adipose
47	chr20:23633600-23634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:23633600-23634200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:23633600-23634400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr20:23633600-23634400	Enhancers	Psoas Muscle	Psoas

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