Variant report

Variant	esv3390601
Chromosome Location	chr20:23003076-23007103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22979526..22981249-chr20:23001847..23004441,2	MCF-7	breast:
2	chr20:22997980..23000711-chr20:23001339..23003564,3	K562	blood:
3	chr20:23000190..23002782-chr20:23004779..23006790,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THBD-1	chr20:23003498-23003903	XLOC_013687

Extended variants
information (count: 181 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556010005	chr20:23003086-23003087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575962146	chr20:23003160-23003161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541841585	chr20:23003176-23003177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535613001	chr20:23003177-23003178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561502031	chr20:23003188-23003189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6076006	chr20:23003244-23003245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191598022	chr20:23003265-23003266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6106594	chr20:23003291-23003292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547635311	chr20:23003351-23003352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146086487	chr20:23003369-23003370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6113902	chr20:23003370-23003371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533539139	chr20:23003426-23003427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546151174	chr20:23003427-23003428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544145552	chr20:23003464-23003465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138659922	chr20:23003517-23003518	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs149338245	chr20:23003522-23003523	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs115764018	chr20:23003523-23003524	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs565925407	chr20:23003528-23003529	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs528572923	chr20:23003555-23003556	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112878947	chr20:23003570-23003571	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs144683980	chr20:23003572-23003573	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539210356	chr20:23003586-23003587	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555922092	chr20:23003606-23003607	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569959053	chr20:23003613-23003614	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs535380161	chr20:23003635-23003636	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs555354553	chr20:23003669-23003670	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs564453081	chr20:23003685-23003686	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs555624675	chr20:23003701-23003702	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs148533281	chr20:23003739-23003740	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs557854913	chr20:23003744-23003745	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs577798287	chr20:23003761-23003762	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs118148459	chr20:23003792-23003793	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs563727221	chr20:23003802-23003803	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs547105682	chr20:23003807-23003808	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs149023194	chr20:23003809-23003810	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529633255	chr20:23003818-23003819	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs2746620	chr20:23003823-23003824	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184122138	chr20:23003853-23003854	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs528439653	chr20:23003875-23003876	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs371049641	chr20:23003907-23003908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571438718	chr20:23003911-23003912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574936876	chr20:23003950-23003951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530889049	chr20:23003972-23003973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371052462	chr20:23003981-23003982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374174900	chr20:23004061-23004062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142881053	chr20:23004067-23004068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535746236	chr20:23004068-23004069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555347845	chr20:23004077-23004078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113420318	chr20:23004132-23004133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146117537	chr20:23004143-23004144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Cancer	20164919	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23001000-23005800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:23001000-23008800	Weak transcription	Lung	lung
4	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:23001200-23003200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:23001600-23005600	Enhancers	Stomach Mucosa	stomach
7	chr20:23002600-23004000	Enhancers	NHDF-Ad	bronchial
8	chr20:23002600-23004400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:23002600-23005600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:23002800-23004800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:23002800-23006200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr20:23003000-23005000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr20:23003000-23005200	Weak transcription	Thymus	Thymus
14	chr20:23003000-23005800	Weak transcription	Dnd41	blood
15	chr20:23003200-23003400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr20:23003400-23003800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr20:23003400-23006000	Enhancers	Fetal Heart	heart
18	chr20:23003800-23004600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr20:23004200-23005000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr20:23004400-23004600	Enhancers	Spleen	Spleen
21	chr20:23004600-23004800	Enhancers	HSMMtube	muscle
22	chr20:23004600-23005400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:23004600-23005400	Enhancers	Gastric	stomach
24	chr20:23004600-23007600	Weak transcription	Spleen	Spleen
25	chr20:23005000-23005600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr20:23005200-23005600	Enhancers	Ovary	ovary
27	chr20:23005200-23005600	Enhancers	Thymus	Thymus
28	chr20:23005400-23010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:23005600-23006200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:23005600-23006200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr20:23005800-23006600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr20:23005800-23007800	Enhancers	Dnd41	blood
33	chr20:23005800-23010200	Enhancers	Primary hematopoietic stem cells	blood
34	chr20:23005800-23010600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:23006000-23006400	Enhancers	K562	blood
36	chr20:23006000-23010600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr20:23006000-23010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:23006200-23006400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr20:23006200-23006400	Enhancers	Placenta	Placenta
40	chr20:23006200-23008000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr20:23006200-23009000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr20:23006200-23010200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:23006600-23007000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr20:23006800-23008200	Weak transcription	Placenta	Placenta
45	chr20:23007000-23008000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links