Variant report

Variant	esv1800835
Chromosome Location	chr20:912626-915863
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	chr20:914281..915061-chr3:49059512..49060483,2	NB4	blood:

Variant related genes	Relation type
ENSG00000178057	chromatin interactions
ENSG00000178149	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs761570	chr20:912626-912627	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs761571	chr20:912665-912666	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542916641	chr20:912685-912686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs761572	chr20:912699-912700	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562007485	chr20:912703-912704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148638140	chr20:912744-912745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538590169	chr20:912750-912751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551991111	chr20:912756-912757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530871669	chr20:912787-912788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551058778	chr20:912815-912816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541338922	chr20:912821-912822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142091828	chr20:912833-912834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187071193	chr20:912858-912859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546565225	chr20:912859-912860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11906088	chr20:912867-912868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538833691	chr20:912932-912933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558828637	chr20:912949-912950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564237671	chr20:912957-912958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151153361	chr20:912977-912978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537514248	chr20:912988-912989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35862439	chr20:913000-913001	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574335073	chr20:913019-913020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6118267	chr20:913035-913036	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553245809	chr20:913157-913158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140232160	chr20:913205-913206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35514553	chr20:913253-913254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs377075135	chr20:913294-913295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35368789	chr20:913303-913304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575818708	chr20:913322-913323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191843050	chr20:913326-913327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35969692	chr20:913341-913342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561470177	chr20:913369-913370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566338913	chr20:913385-913386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556396191	chr20:913389-913390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547063405	chr20:913392-913393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528753772	chr20:913444-913445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184300779	chr20:913448-913449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576360484	chr20:913454-913455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67670882	chr20:913467-913468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569037016	chr20:913471-913472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6118269	chr20:913489-913490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188207814	chr20:913507-913508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181067370	chr20:913511-913512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571469696	chr20:913528-913529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185511380	chr20:913582-913583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190661101	chr20:913602-913603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200976964	chr20:913603-913604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553309229	chr20:913616-913617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576431171	chr20:913618-913619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76125084	chr20:913622-913623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897400-954200	Weak transcription	Right Atrium	heart
2	chr20:906000-913200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:912600-913200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr20:913200-914200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:914000-914400	Enhancers	Duodenum Mucosa	Duodenum
6	chr20:914000-914400	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr20:914000-914400	Enhancers	Stomach Mucosa	stomach
8	chr20:914800-915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:915200-924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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