Variant report

Variant	esv3451414
Chromosome Location	chr20:25696452-25700550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs534272681	chr20:25696458-25696459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190231256	chr20:25696459-25696460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570658017	chr20:25696471-25696472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372268463	chr20:25696496-25696497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182447060	chr20:25696501-25696502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556094852	chr20:25696518-25696519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576241046	chr20:25696519-25696520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535404524	chr20:25696530-25696531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554907218	chr20:25696578-25696579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571741720	chr20:25696609-25696610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540702921	chr20:25696657-25696658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563882803	chr20:25696659-25696660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6050826	chr20:25696681-25696682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191239030	chr20:25696684-25696685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562942100	chr20:25696721-25696722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6050827	chr20:25696794-25696795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531999602	chr20:25696800-25696801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4625986	chr20:25696837-25696838	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs548935728	chr20:25696875-25696876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6050829	chr20:25696916-25696917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6050830	chr20:25696951-25696952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6115269	chr20:25697084-25697085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113891987	chr20:25697113-25697114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558310512	chr20:25697160-25697161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371671398	chr20:25697232-25697233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375389808	chr20:25697291-25697292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562043704	chr20:25697333-25697334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527735443	chr20:25697338-25697339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547903233	chr20:25697359-25697360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570885022	chr20:25697417-25697418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539554582	chr20:25697418-25697419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549918327	chr20:25697446-25697447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569766770	chr20:25697461-25697462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535722896	chr20:25697487-25697488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555269958	chr20:25697532-25697533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113736984	chr20:25697558-25697559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571702036	chr20:25697570-25697571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548754710	chr20:25697616-25697617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534354562	chr20:25697668-25697669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557338457	chr20:25697669-25697670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577618876	chr20:25697699-25697700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58041797	chr20:25697709-25697710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59094485	chr20:25697712-25697713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576591182	chr20:25697713-25697714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542538238	chr20:25697723-25697724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562412501	chr20:25697742-25697743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142695418	chr20:25697765-25697766	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs8116556	chr20:25697794-25697795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202185383	chr20:25697799-25697800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564347385	chr20:25697809-25697810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25677800-25701000	Weak transcription	Pancreas	Pancrea
2	chr20:25694000-25700200	Weak transcription	Primary T cells from cord blood	blood
3	chr20:25694200-25705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr20:25697800-25700000	Weak transcription	Gastric	stomach
5	chr20:25698600-25700600	Weak transcription	Ovary	ovary
6	chr20:25699200-25700800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr20:25699200-25701200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr20:25699200-25701200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr20:25699200-25701200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr20:25699200-25701400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr20:25699200-25701400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr20:25699200-25701400	Weak transcription	Brain Hippocampus Middle	brain
13	chr20:25699400-25700000	Enhancers	Dnd41	blood
14	chr20:25699400-25700800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr20:25699400-25702600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr20:25699600-25700000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr20:25699600-25700400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:25699600-25700400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr20:25699600-25700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr20:25699600-25701400	Enhancers	Fetal Thymus	thymus
21	chr20:25699800-25700000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr20:25699800-25707400	Weak transcription	Psoas Muscle	Psoas
23	chr20:25700000-25700200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr20:25700000-25700200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr20:25700000-25700200	Active TSS	HepG2	liver
26	chr20:25700000-25700400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:25700000-25700400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr20:25700000-25700400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr20:25700000-25700600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr20:25700000-25700600	Flanking Active TSS	Dnd41	blood
31	chr20:25700000-25700600	Enhancers	NHEK	skin
32	chr20:25700000-25701200	Enhancers	Gastric	stomach
33	chr20:25700000-25701400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr20:25700000-25701400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr20:25700000-25708000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:25700200-25700400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:25700200-25700400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr20:25700200-25700400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr20:25700200-25700400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr20:25700200-25700400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr20:25700200-25700400	Flanking Active TSS	HepG2	liver
42	chr20:25700200-25700600	Enhancers	Primary T cells from cord blood	blood
43	chr20:25700200-25701000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr20:25700200-25701200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:25700200-25701400	Enhancers	Esophagus	oesophagus
46	chr20:25700200-25701400	Enhancers	Thymus	Thymus
47	chr20:25700400-25701200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:25700400-25701200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr20:25700400-25701200	Enhancers	Stomach Mucosa	stomach
50	chr20:25700400-25701200	Enhancers	HepG2	liver

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