Variant report

Variant	esv12647
Chromosome Location	chr20:29814555-29832573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2341 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2341 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28538405	chr20:29814576-29814577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552999406	chr20:29814583-29814584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28616616	chr20:29814585-29814586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28539544	chr20:29814586-29814587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34975038	chr20:29814600-29814601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575405213	chr20:29814610-29814611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79647215	chr20:29814614-29814615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4911212	chr20:29814619-29814620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558463631	chr20:29814623-29814624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578209363	chr20:29814644-29814645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563722970	chr20:29814654-29814655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4911213	chr20:29814656-29814657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377247936	chr20:29814665-29814666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574076777	chr20:29814671-29814672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549590177	chr20:29814677-29814678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542666125	chr20:29814686-29814687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559431045	chr20:29814687-29814688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528435699	chr20:29814692-29814693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150853237	chr20:29814701-29814702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545022600	chr20:29814710-29814711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564814926	chr20:29814712-29814713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571256495	chr20:29814721-29814722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530747822	chr20:29814722-29814723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532161354	chr20:29814735-29814736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567392857	chr20:29814740-29814741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370107781	chr20:29814750-29814751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546675098	chr20:29814753-29814754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566585226	chr20:29814755-29814756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538618456	chr20:29814759-29814760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547370373	chr20:29814767-29814768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558622194	chr20:29814779-29814780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7261582	chr20:29814780-29814781	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537392843	chr20:29814790-29814791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202226427	chr20:29814796-29814797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377208350	chr20:29814797-29814798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113427191	chr20:29814806-29814807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536539424	chr20:29814807-29814808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553023079	chr20:29814849-29814850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6119823	chr20:29814877-29814878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75368508	chr20:29814897-29814898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544985849	chr20:29814915-29814916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376385513	chr20:29814918-29814919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6087871	chr20:29814922-29814923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565174156	chr20:29814941-29814942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183654117	chr20:29814946-29814947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544128209	chr20:29814951-29814952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561243425	chr20:29814961-29814962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529878069	chr20:29814962-29814963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4911218	chr20:29814971-29814972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532287910	chr20:29814972-29814973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21509527	CNVD

Chromatin state (count:149 , 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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