Variant report

Variant	esv3447191
Chromosome Location	chr20:29647427-29647789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73610100	chr20:29647427-29647428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62206015	chr20:29647440-29647441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76253428	chr20:29647441-29647442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143681802	chr20:29647443-29647444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs68161549	chr20:29647446-29647447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565885845	chr20:29647447-29647448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142214823	chr20:29647451-29647452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62206016	chr20:29647461-29647462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62206017	chr20:29647465-29647466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77417434	chr20:29647467-29647468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78465167	chr20:29647473-29647474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs80159807	chr20:29647474-29647475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62206018	chr20:29647478-29647479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140470528	chr20:29647479-29647480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62206019	chr20:29647481-29647482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557864287	chr20:29647482-29647483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62206020	chr20:29647483-29647484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375384548	chr20:29647493-29647494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62206021	chr20:29647494-29647495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369442914	chr20:29647495-29647496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79184309	chr20:29647499-29647500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62206022	chr20:29647501-29647502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369873517	chr20:29647503-29647504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62206023	chr20:29647505-29647506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142023236	chr20:29647509-29647510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74945911	chr20:29647510-29647511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs11700081	chr20:29647525-29647526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs57481966	chr20:29647527-29647528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112051515	chr20:29647531-29647532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs151027882	chr20:29647541-29647542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372388759	chr20:29647542-29647543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201431775	chr20:29647554-29647555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs140628199	chr20:29647557-29647558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs570908669	chr20:29647558-29647559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs71239179	chr20:29647564-29647565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112602165	chr20:29647570-29647571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536690036	chr20:29647574-29647575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199750869	chr20:29647575-29647576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371762421	chr20:29647578-29647579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376241341	chr20:29647579-29647580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs61099553	chr20:29647591-29647592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375038197	chr20:29647592-29647593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201507306	chr20:29647613-29647614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370622521	chr20:29647614-29647615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200723386	chr20:29647616-29647617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111212296	chr20:29647634-29647635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs377253764	chr20:29647646-29647647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs376512502	chr20:29647649-29647650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570412957	chr20:29647652-29647653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs370951319	chr20:29647655-29647656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29645400-29647600	ZNF genes & repeats	Brain Hippocampus Middle	brain
2	chr20:29645400-29647600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
3	chr20:29645400-29647600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
4	chr20:29645400-29647800	ZNF genes & repeats	Brain Substantia Nigra	brain
5	chr20:29645400-29648200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr20:29645400-29648400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
7	chr20:29645400-29648400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:29645400-29648400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:29645400-29648400	ZNF genes & repeats	Fetal Heart	heart
10	chr20:29645400-29648400	ZNF genes & repeats	Fetal Kidney	kidney
11	chr20:29645400-29648600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr20:29645400-29649800	ZNF genes & repeats	Liver	Liver
13	chr20:29645400-29650600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr20:29645400-29653800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:29645400-29653800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr20:29645400-29653800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr20:29645400-29653800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr20:29645400-29653800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr20:29645400-29653800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:29645400-29653800	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr20:29645400-29653800	ZNF genes & repeats	Fetal Brain Male	brain
22	chr20:29645400-29653800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr20:29645600-29648400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr20:29645600-29649400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr20:29645600-29650000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr20:29645600-29653800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr20:29645600-29653800	ZNF genes & repeats	Fetal Lung	lung
28	chr20:29645800-29649400	ZNF genes & repeats	Aorta	Aorta
29	chr20:29645800-29653800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr20:29645800-29653800	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr20:29646000-29649400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr20:29646000-29653800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr20:29646200-29648400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr20:29646200-29648400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
35	chr20:29646400-29647600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr20:29646800-29648400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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