Variant report

Variant	esv3422848
Chromosome Location	chr20:24187502-24190300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23917874..23918575-chr20:24189095..24189921,2	MCF-7	breast:
2	chr20:24189074..24189575-chr20:24761714..24762521,2	MCF-7	breast:
3	chr20:24188959..24189575-chr20:24297258..24297884,2	MCF-7	breast:
4	chr20:24189062..24189921-chr20:24297244..24297772,2	MCF-7	breast:

Extended variants
information (count: 216 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151291861	chr20:24187504-24187505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553728687	chr20:24187565-24187566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182369478	chr20:24187604-24187605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140543735	chr20:24187656-24187657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147120974	chr20:24187673-24187674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73333895	chr20:24187697-24187698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542413535	chr20:24187735-24187736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77167927	chr20:24187765-24187766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7272205	chr20:24187784-24187785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs547401868	chr20:24187787-24187788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141166298	chr20:24187805-24187806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563919838	chr20:24187806-24187807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115749598	chr20:24187813-24187814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552930807	chr20:24187836-24187837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569706290	chr20:24187841-24187842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530066332	chr20:24187852-24187853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76755839	chr20:24187865-24187866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146919631	chr20:24187875-24187876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565568249	chr20:24187878-24187879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534601074	chr20:24187885-24187886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551303599	chr20:24187886-24187887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6114536	chr20:24187996-24187997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571460392	chr20:24188037-24188038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539773942	chr20:24188082-24188083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34403325	chr20:24188098-24188099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6114537	chr20:24188107-24188108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556305075	chr20:24188156-24188157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576446074	chr20:24188196-24188197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201052653	chr20:24188244-24188245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11467843	chr20:24188245-24188246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201967755	chr20:24188246-24188247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200267519	chr20:24188254-24188255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73097364	chr20:24188256-24188257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535984966	chr20:24188321-24188322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79788274	chr20:24188348-24188349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11087455	chr20:24188350-24188351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200331260	chr20:24188352-24188353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544200094	chr20:24188354-24188355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111725085	chr20:24188355-24188356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397755207	chr20:24188356-24188357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572722234	chr20:24188357-24188358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541656682	chr20:24188368-24188369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137984254	chr20:24188382-24188383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572780027	chr20:24188423-24188424	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569877071	chr20:24188433-24188434	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542131980	chr20:24188441-24188442	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74849804	chr20:24188448-24188449	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149476625	chr20:24188451-24188452	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528934099	chr20:24188502-24188503	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144052826	chr20:24188511-24188512	Weak transcription Active TSS 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:30 , 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	chr20:24186200-24188600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr20:24186200-24188600	Enhancers	Fetal Intestine Large	intestine
5	chr20:24187400-24188000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:24187400-24188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:24187400-24188600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:24187400-24188600	Enhancers	Fetal Intestine Small	intestine
9	chr20:24188000-24192200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr20:24188400-24188800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:24188400-24188800	Enhancers	Pancreas	Pancrea
12	chr20:24188400-24192200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:24188600-24188800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:24188600-24189200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr20:24188600-24189400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr20:24188600-24189600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr20:24188600-24190400	Weak transcription	Fetal Intestine Large	intestine
18	chr20:24188600-24190800	Weak transcription	Fetal Intestine Small	intestine
19	chr20:24188600-24192200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:24188800-24189000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:24188800-24192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:24189000-24189200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:24189200-24189400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:24189200-24192200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr20:24189400-24192600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:24189400-24192600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:24189600-24189800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr20:24189600-24189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:24189600-24193200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr20:24189800-24192200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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