Variant report

Variant	esv3525634
Chromosome Location	chr20:1657565-1657858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535131338	chr20:1657593-1657594	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190746817	chr20:1657599-1657600	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140824617	chr20:1657646-1657647	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571763659	chr20:1657688-1657689	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs7275082	chr20:1657731-1657732	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557317440	chr20:1657739-1657740	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2250268	chr20:1657741-1657742	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181897034	chr20:1657796-1657797	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs144593226	chr20:1657799-1657800	Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs73604196	chr20:1657816-1657817	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138968015	chr20:1657818-1657819	Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540638834	chr20:1657858-1657859	Genic enhancers Enhancers Flanking Active TSS	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
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	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
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
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1646200-1660200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr20:1652400-1658200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr20:1653600-1657800	Weak transcription	Thymus	Thymus
4	chr20:1655000-1657600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr20:1655600-1658200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr20:1655600-1662200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr20:1655800-1659400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr20:1655800-1660200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr20:1655800-1660400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr20:1656000-1659800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:1656200-1657600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr20:1656600-1658000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr20:1656800-1657600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr20:1657200-1657600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:1657200-1658000	Genic enhancers	Primary T cells from cord blood	blood
16	chr20:1657400-1657600	Enhancers	GM12878-XiMat	blood
17	chr20:1657400-1657800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr20:1657400-1657800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr20:1657400-1657800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr20:1657600-1657800	Enhancers	Brain Cingulate Gyrus	brain
21	chr20:1657600-1657800	Bivalent Enhancer	GM12878-XiMat	blood
22	chr20:1657800-1658000	Enhancers	Thymus	Thymus
23	chr20:1657800-1658200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr20:1657800-1658400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr20:1657800-1659200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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