Variant report

Variant	nsv585904
Chromosome Location	chr20:29811652-29820738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1300 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1300 , 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	rs6061075	chr20:29811652-29811653	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557560522	chr20:29811662-29811663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558585976	chr20:29811671-29811672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372708486	chr20:29811672-29811673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575266316	chr20:29811677-29811678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147210233	chr20:29811681-29811682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374949733	chr20:29811685-29811686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145778075	chr20:29811694-29811695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371834896	chr20:29811726-29811727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11906100	chr20:29811730-29811731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372697319	chr20:29811731-29811732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543184727	chr20:29811735-29811736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553326008	chr20:29811750-29811751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376812935	chr20:29811761-29811762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369225170	chr20:29811762-29811763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77805619	chr20:29811766-29811767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572990903	chr20:29811772-29811773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77824119	chr20:29811790-29811791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545144472	chr20:29811795-29811796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149503111	chr20:29811801-29811802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148712509	chr20:29811802-29811803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565040768	chr20:29811812-29811813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6061092	chr20:29811819-29811820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544293834	chr20:29811827-29811828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144359867	chr20:29811829-29811830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561205336	chr20:29811831-29811832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540071988	chr20:29811832-29811833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114576264	chr20:29811836-29811837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546766892	chr20:29811837-29811838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566600175	chr20:29811840-29811841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138806419	chr20:29811842-29811843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532351283	chr20:29811847-29811848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117990914	chr20:29811851-29811852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371185934	chr20:29811852-29811853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143814793	chr20:29811856-29811857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141987767	chr20:29811857-29811858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141783288	chr20:29811860-29811861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140088790	chr20:29811862-29811863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151125658	chr20:29811863-29811864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150333822	chr20:29811864-29811865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547558824	chr20:29811866-29811867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140584928	chr20:29811867-29811868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113641143	chr20:29811871-29811872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377621879	chr20:29811886-29811887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559433427	chr20:29811891-29811892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77455266	chr20:29811892-29811893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147349513	chr20:29811896-29811897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140813118	chr20:29811901-29811902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62206834	chr20:29811902-29811903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567933920	chr20:29811907-29811908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29803800-29814000	ZNF genes & repeats	Fetal Heart	heart
2	chr20:29803800-29818600	ZNF genes & repeats	Brain Angular Gyrus	brain
3	chr20:29803800-29833200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:29803800-29833200	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
6	chr20:29803800-29833200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
7	chr20:29803800-29833200	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr20:29803800-29833200	ZNF genes & repeats	Fetal Kidney	kidney
9	chr20:29803800-29833200	ZNF genes & repeats	Fetal Lung	lung
10	chr20:29803800-29833200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
11	chr20:29803800-29833400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr20:29803800-29833400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:29803800-29833400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:29803800-29833400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr20:29803800-29833400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr20:29803800-29833400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:29803800-29833400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr20:29803800-29833400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr20:29803800-29833400	ZNF genes & repeats	Liver	Liver
20	chr20:29803800-29833400	ZNF genes & repeats	Brain Substantia Nigra	brain
21	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr20:29803800-29833400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr20:29803800-29833400	ZNF genes & repeats	Gastric	stomach
24	chr20:29803800-29833400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
25	chr20:29803800-29833400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
26	chr20:29803800-29833400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr20:29803800-29833600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr20:29803800-29833600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr20:29803800-29833800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr20:29804000-29814000	ZNF genes & repeats	GM12878-XiMat	blood
31	chr20:29804000-29833200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr20:29804000-29833200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr20:29804000-29833200	ZNF genes & repeats	Dnd41	blood
34	chr20:29804000-29833400	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr20:29804000-29833400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
36	chr20:29804000-29833400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
37	chr20:29804000-29833400	ZNF genes & repeats	Fetal Brain Male	brain
38	chr20:29804000-29833400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr20:29804000-29833600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr20:29804200-29833400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr20:29804400-29833000	ZNF genes & repeats	HepG2	liver
42	chr20:29804400-29833200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr20:29804400-29833400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr20:29804600-29829800	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr20:29805600-29814200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:29808000-29818600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr20:29808200-29822000	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr20:29808400-29812800	ZNF genes & repeats	NH-A	brain
49	chr20:29808400-29833200	ZNF genes & repeats	K562	blood
50	chr20:29811200-29812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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