Variant report

Variant	esv3505006
Chromosome Location	chr20:29815341-29825732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1281 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540488802	chr20:29815342-29815343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377229410	chr20:29815343-29815344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557878674	chr20:29815347-29815348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560467996	chr20:29815364-29815365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371217187	chr20:29815366-29815367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201160274	chr20:29815371-29815372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546001915	chr20:29815377-29815378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562422581	chr20:29815386-29815387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs531467658	chr20:29815391-29815392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557805437	chr20:29815396-29815397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541450443	chr20:29815410-29815411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs117113402	chr20:29815418-29815419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527294519	chr20:29815420-29815421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546845823	chr20:29815423-29815424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6057566	chr20:29815424-29815425	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564853023	chr20:29815453-29815454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532204668	chr20:29815465-29815466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147821386	chr20:29815475-29815476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11697002	chr20:29815477-29815478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144822066	chr20:29815480-29815481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144262994	chr20:29815482-29815483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs544123537	chr20:29815489-29815490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149111785	chr20:29815491-29815492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145040346	chr20:29815492-29815493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs76259694	chr20:29815494-29815495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554771669	chr20:29815513-29815514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568427499	chr20:29815530-29815531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200624882	chr20:29815531-29815532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534201174	chr20:29815550-29815551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554080924	chr20:29815554-29815555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563907880	chr20:29815565-29815566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs545665692	chr20:29815570-29815571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78207001	chr20:29815595-29815596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537285070	chr20:29815603-29815604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76840431	chr20:29815605-29815606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555157466	chr20:29815608-29815609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376638214	chr20:29815630-29815631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367898030	chr20:29815632-29815633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141184938	chr20:29815634-29815635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148129094	chr20:29815635-29815636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576051533	chr20:29815640-29815641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541861900	chr20:29815644-29815645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201587801	chr20:29815652-29815653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199923216	chr20:29815669-29815670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561456150	chr20:29815675-29815676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147345852	chr20:29815710-29815711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78705148	chr20:29815723-29815724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527256831	chr20:29815724-29815725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142175467	chr20:29815730-29815731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs6141702	chr20:29815732-29815733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29803800-29818600	ZNF genes & repeats	Brain Angular Gyrus	brain
2	chr20:29803800-29833200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:29803800-29833200	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr20:29803800-29833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr20:29803800-29833200	ZNF genes & repeats	Fetal Kidney	kidney
8	chr20:29803800-29833200	ZNF genes & repeats	Fetal Lung	lung
9	chr20:29803800-29833200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
10	chr20:29803800-29833400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr20:29803800-29833400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:29803800-29833400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:29803800-29833400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr20:29803800-29833400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr20:29803800-29833400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:29803800-29833400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr20:29803800-29833400	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr20:29803800-29833400	ZNF genes & repeats	Liver	Liver
19	chr20:29803800-29833400	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr20:29803800-29833400	ZNF genes & repeats	Gastric	stomach
23	chr20:29803800-29833400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
24	chr20:29803800-29833400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr20:29803800-29833400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr20:29803800-29833600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr20:29803800-29833600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr20:29803800-29833800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr20:29804000-29833200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr20:29804000-29833200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr20:29804000-29833200	ZNF genes & repeats	Dnd41	blood
32	chr20:29804000-29833400	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr20:29804000-29833400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
34	chr20:29804000-29833400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr20:29804000-29833400	ZNF genes & repeats	Fetal Brain Male	brain
36	chr20:29804000-29833400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr20:29804000-29833600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr20:29804200-29833400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr20:29804400-29833000	ZNF genes & repeats	HepG2	liver
40	chr20:29804400-29833200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr20:29804400-29833400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr20:29804600-29829800	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr20:29808000-29818600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr20:29808200-29822000	ZNF genes & repeats	Colon Smooth Muscle	Colon
45	chr20:29808400-29833200	ZNF genes & repeats	K562	blood
46	chr20:29811800-29818600	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr20:29811800-29833200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr20:29811800-29833200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:29812000-29826000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr20:29812000-29833200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood

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