Variant report

Variant	esv3396745
Chromosome Location	chr8:46857287-46861985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 623 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62498544	chr8:46857288-46857289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527919317	chr8:46857292-46857293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538458871	chr8:46857293-46857294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558103889	chr8:46857294-46857295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs578107464	chr8:46857298-46857299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192826798	chr8:46857299-46857300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540616715	chr8:46857305-46857306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560832835	chr8:46857308-46857309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573962507	chr8:46857310-46857311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62498545	chr8:46857319-46857320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546286098	chr8:46857321-46857322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62498546	chr8:46857323-46857324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185558221	chr8:46857325-46857326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs71523542	chr8:46857328-46857329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62498547	chr8:46857331-46857332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531724448	chr8:46857332-46857333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs367566539	chr8:46857334-46857335	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564978170	chr8:46857336-46857337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75006795	chr8:46857337-46857338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62498548	chr8:46857343-46857344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111326131	chr8:46857348-46857349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527468662	chr8:46857358-46857359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs62498549	chr8:46857362-46857363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371369542	chr8:46857366-46857367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62498550	chr8:46857371-46857372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529734924	chr8:46857372-46857373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200756214	chr8:46857374-46857375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549769691	chr8:46857384-46857385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112062427	chr8:46857392-46857393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62498552	chr8:46857395-46857396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369769766	chr8:46857399-46857400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551907697	chr8:46857402-46857403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62498553	chr8:46857403-46857404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs538767566	chr8:46857404-46857405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs558617133	chr8:46857410-46857411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571791505	chr8:46857416-46857417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534365789	chr8:46857420-46857421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12682522	chr8:46857421-46857422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs573969463	chr8:46857427-46857428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375099012	chr8:46857432-46857433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147679864	chr8:46857433-46857434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs62498554	chr8:46857437-46857438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576022097	chr8:46857440-46857441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11136129	chr8:46857441-46857442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565340025	chr8:46857451-46857452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201606680	chr8:46857456-46857457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568864938	chr8:46857464-46857465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77915103	chr8:46857465-46857466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77393758	chr8:46857472-46857473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs147846289	chr8:46857479-46857480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46854400-46857600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
2	chr8:46856200-46857400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr8:46856200-46857400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
4	chr8:46856200-46857400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr8:46856200-46857600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:46856200-46857600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:46856200-46857600	ZNF genes & repeats	Aorta	Aorta
8	chr8:46856200-46857600	ZNF genes & repeats	Liver	Liver
9	chr8:46856200-46857600	ZNF genes & repeats	Left Ventricle	heart
10	chr8:46856200-46857600	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr8:46856200-46857600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
12	chr8:46856600-46868600	Weak transcription	NHLF	lung
13	chr8:46856800-46857600	Weak transcription	K562	blood
14	chr8:46856800-46861400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:46856800-46861400	Weak transcription	HSMMtube	muscle
16	chr8:46856800-46861400	Weak transcription	HUVEC	blood vessel
17	chr8:46856800-46868600	Weak transcription	Right Ventricle	heart
18	chr8:46856800-46868600	Weak transcription	NHDF-Ad	bronchial
19	chr8:46857000-46857400	Weak transcription	Gastric	stomach
20	chr8:46857000-46858000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:46857000-46861400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:46857000-46861400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:46857000-46861400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:46857000-46861400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:46857000-46861400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:46857000-46861400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:46857000-46861400	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:46857000-46861400	Weak transcription	Fetal Heart	heart
29	chr8:46857000-46861400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:46857000-46861400	Weak transcription	Fetal Lung	lung
31	chr8:46857000-46861600	Weak transcription	Hela-S3	cervix
32	chr8:46857000-46863600	Weak transcription	NH-A	brain
33	chr8:46857000-46868600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:46857000-46868600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:46857000-46868600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:46857000-46868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:46857000-46868600	Weak transcription	GM12878-XiMat	blood
38	chr8:46857000-46868600	Weak transcription	HepG2	liver
39	chr8:46857400-46858400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:46857400-46861400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:46857400-46861400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:46857600-46857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:46857600-46861400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:46857600-46861400	Weak transcription	Left Ventricle	heart
45	chr8:46857600-46861400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:46857600-46868600	Weak transcription	Aorta	Aorta
47	chr8:46857600-46868600	Weak transcription	Psoas Muscle	Psoas
48	chr8:46858000-46858200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:46858200-46861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:46858400-46860400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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