Variant report

Variant	esv994391
Chromosome Location	chr20:29804598-29832573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3773 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3773 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528781699	chr20:29804598-29804599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552133822	chr20:29804600-29804601	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111067061	chr20:29804610-29804611	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531053058	chr20:29804612-29804613	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs111220125	chr20:29804621-29804622	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567606703	chr20:29804623-29804624	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185608440	chr20:29804627-29804628	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111212307	chr20:29804631-29804632	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs111212308	chr20:29804643-29804644	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546572298	chr20:29804646-29804647	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs202107429	chr20:29804656-29804657	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574556240	chr20:29804661-29804662	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189972731	chr20:29804676-29804677	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538543134	chr20:29804693-29804694	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143943956	chr20:29804696-29804697	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111212309	chr20:29804701-29804702	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6142593	chr20:29804718-29804719	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143317062	chr20:29804728-29804729	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs202030716	chr20:29804731-29804732	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537593651	chr20:29804739-29804740	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113704537	chr20:29804745-29804746	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570574058	chr20:29804748-29804749	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537522337	chr20:29804757-29804758	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554769064	chr20:29804758-29804759	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148417269	chr20:29804761-29804762	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574413091	chr20:29804775-29804776	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540365634	chr20:29804787-29804788	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112739601	chr20:29804788-29804789	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546177152	chr20:29804791-29804792	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576962475	chr20:29804821-29804822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545707442	chr20:29804829-29804830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565398700	chr20:29804835-29804836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs6142623	chr20:29804845-29804846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs370990914	chr20:29804846-29804847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375043235	chr20:29804855-29804856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561561971	chr20:29804856-29804857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528663648	chr20:29804858-29804859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530111035	chr20:29804862-29804863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546736221	chr20:29804865-29804866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566519430	chr20:29804870-29804871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192304120	chr20:29804879-29804880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540788144	chr20:29804882-29804883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552153501	chr20:29804895-29804896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370162486	chr20:29804896-29804897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569026289	chr20:29804907-29804908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538156961	chr20:29804930-29804931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs199937155	chr20:29804942-29804943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569496217	chr20:29804945-29804946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368176440	chr20:29804946-29804947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568276843	chr20:29804960-29804961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29803800-29804800	ZNF genes & repeats	K562	blood
2	chr20:29803800-29805000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr20:29803800-29805000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
4	chr20:29803800-29805200	ZNF genes & repeats	Colon Smooth Muscle	Colon
5	chr20:29803800-29806800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
6	chr20:29803800-29807000	ZNF genes & repeats	Colonic Mucosa	Colon
7	chr20:29803800-29809400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr20:29803800-29809800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr20:29803800-29809800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
10	chr20:29803800-29811000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
11	chr20:29803800-29811200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:29803800-29811200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
13	chr20:29803800-29814000	ZNF genes & repeats	Fetal Heart	heart
14	chr20:29803800-29818600	ZNF genes & repeats	Brain Angular Gyrus	brain
15	chr20:29803800-29833200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:29803800-29833200	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr20:29803800-29833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr20:29803800-29833200	ZNF genes & repeats	Fetal Kidney	kidney
21	chr20:29803800-29833200	ZNF genes & repeats	Fetal Lung	lung
22	chr20:29803800-29833200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr20:29803800-29833400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr20:29803800-29833400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:29803800-29833400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:29803800-29833400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr20:29803800-29833400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr20:29803800-29833400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:29803800-29833400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr20:29803800-29833400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr20:29803800-29833400	ZNF genes & repeats	Liver	Liver
32	chr20:29803800-29833400	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr20:29803800-29833400	ZNF genes & repeats	Gastric	stomach
36	chr20:29803800-29833400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr20:29803800-29833400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
38	chr20:29803800-29833400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr20:29803800-29833600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr20:29803800-29833600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr20:29803800-29833800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr20:29804000-29804800	ZNF genes & repeats	A549	lung
43	chr20:29804000-29805200	ZNF genes & repeats	Spleen	Spleen
44	chr20:29804000-29805200	ZNF genes & repeats	HUVEC	blood vessel
45	chr20:29804000-29805400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr20:29804000-29807000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
47	chr20:29804000-29809200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:29804000-29810600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:29804000-29814000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr20:29804000-29833200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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