Variant report

Variant	esv3424784
Chromosome Location	chr20:24186452-24191250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:24185798..24186480-chr20:24761761..24762538,2	MCF-7	breast:
2	chr20:23917874..23918575-chr20:24189095..24189921,2	MCF-7	breast:
3	chr20:24189074..24189575-chr20:24761714..24762521,2	MCF-7	breast:
4	chr20:24185914..24186516-chr20:24277045..24277654,2	MCF-7	breast:
5	chr20:24189062..24189921-chr20:24297244..24297772,2	MCF-7	breast:
6	chr20:24188959..24189575-chr20:24297258..24297884,2	MCF-7	breast:

Extended variants
information (count: 304 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:304 , 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	rs117390043	chr20:24186476-24186477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576610368	chr20:24186535-24186536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs85689	chr20:24186564-24186565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113955782	chr20:24186567-24186568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558872165	chr20:24186580-24186581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116809075	chr20:24186583-24186584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560168560	chr20:24186625-24186626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532493398	chr20:24186628-24186629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149736083	chr20:24186666-24186667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576373	chr20:24186697-24186698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531889327	chr20:24186700-24186701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs85687	chr20:24186701-24186702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183060857	chr20:24186765-24186766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs118190085	chr20:24186836-24186837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146266361	chr20:24186870-24186871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574827559	chr20:24186884-24186885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111958066	chr20:24186901-24186902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6138233	chr20:24186915-24186916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202031326	chr20:24186983-24186984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556066199	chr20:24187006-24187007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79300442	chr20:24187007-24187008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535378388	chr20:24187037-24187038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28441577	chr20:24187057-24187058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116715613	chr20:24187100-24187101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548103492	chr20:24187110-24187111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144197986	chr20:24187130-24187131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370655815	chr20:24187182-24187183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553765738	chr20:24187192-24187193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577251851	chr20:24187294-24187295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75588084	chr20:24187296-24187297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2749424	chr20:24187337-24187338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531972504	chr20:24187338-24187339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73902710	chr20:24187359-24187360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562321145	chr20:24187373-24187374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528012044	chr20:24187377-24187378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79884166	chr20:24187390-24187391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149153116	chr20:24187407-24187408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532862726	chr20:24187419-24187420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187345287	chr20:24187437-24187438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191726516	chr20:24187444-24187445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535592674	chr20:24187454-24187455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555167498	chr20:24187457-24187458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7508956	chr20:24187458-24187459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151291861	chr20:24187504-24187505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553728687	chr20:24187565-24187566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182369478	chr20:24187604-24187605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140543735	chr20:24187656-24187657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147120974	chr20:24187673-24187674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73333895	chr20:24187697-24187698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542413535	chr20:24187735-24187736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24184800-24188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24185400-24188800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr20:24186000-24186600	Enhancers	Dnd41	blood
4	chr20:24186200-24188600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr20:24186200-24188600	Enhancers	Fetal Intestine Large	intestine
6	chr20:24187200-24187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:24187400-24188000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr20:24187400-24188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:24187400-24188600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:24187400-24188600	Enhancers	Fetal Intestine Small	intestine
11	chr20:24188000-24192200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr20:24188400-24188800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:24188400-24188800	Enhancers	Pancreas	Pancrea
14	chr20:24188400-24192200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:24188600-24188800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:24188600-24189200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr20:24188600-24189400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:24188600-24189600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr20:24188600-24190400	Weak transcription	Fetal Intestine Large	intestine
20	chr20:24188600-24190800	Weak transcription	Fetal Intestine Small	intestine
21	chr20:24188600-24192200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr20:24188800-24189000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:24188800-24192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:24189000-24189200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:24189200-24189400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:24189200-24192200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr20:24189400-24192600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr20:24189400-24192600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:24189600-24189800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:24189600-24189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr20:24189600-24193200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr20:24189800-24192200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr20:24190400-24190800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr20:24190400-24196000	Enhancers	Fetal Intestine Large	intestine
35	chr20:24190800-24191400	Enhancers	Fetal Intestine Small	intestine
36	chr20:24190800-24192800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr20:24191000-24191400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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