Variant report

Variant	esv3431723
Chromosome Location	chr8:46844870-46845623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565826614	chr8:46844875-46844876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9720171	chr8:46844890-46844891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9720481	chr8:46844894-46844895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4436139	chr8:46844927-46844928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377475510	chr8:46844931-46844932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534610789	chr8:46844934-46844935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4872892	chr8:46844941-46844942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4872891	chr8:46844950-46844951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371430085	chr8:46844951-46844952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28889127	chr8:46844953-46844954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374697746	chr8:46844965-46844966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368218120	chr8:46844971-46844972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4636220	chr8:46844974-46844975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62497877	chr8:46844976-46844977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4498558	chr8:46844998-46844999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28848195	chr8:46845002-46845003	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373879963	chr8:46845005-46845006	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4368992	chr8:46845006-46845007	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4367557	chr8:46845012-46845013	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4509331	chr8:46845016-46845017	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4872890	chr8:46845017-46845018	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4498557	chr8:46845019-46845020	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374698679	chr8:46845027-46845028	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367840055	chr8:46845051-46845052	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4872889	chr8:46845057-46845058	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4601320	chr8:46845061-46845062	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372671791	chr8:46845064-46845065	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4484707	chr8:46845070-46845071	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4507772	chr8:46845074-46845075	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4286962	chr8:46845077-46845078	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369631703	chr8:46845091-46845092	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78012218	chr8:46845093-46845094	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs4507771	chr8:46845095-46845096	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4292697	chr8:46845106-46845107	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs4872887	chr8:46845120-46845121	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4506227	chr8:46845129-46845130	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs112328715	chr8:46845131-46845132	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4503109	chr8:46845143-46845144	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374487595	chr8:46845144-46845145	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4428682	chr8:46845146-46845147	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs202138594	chr8:46845149-46845150	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs28787571	chr8:46845161-46845162	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377368498	chr8:46845162-46845163	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs4394404	chr8:46845163-46845164	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4872632	chr8:46845176-46845177	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs4534137	chr8:46845177-46845178	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4612357	chr8:46845182-46845183	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373825814	chr8:46845191-46845192	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4370539	chr8:46845199-46845200	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs4620297	chr8:46845204-46845205	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46841800-46847800	Weak transcription	Lung	lung
2	chr8:46843800-46845200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:46843800-46845200	Weak transcription	Fetal Thymus	thymus
4	chr8:46843800-46845200	Weak transcription	Gastric	stomach
5	chr8:46843800-46845200	Weak transcription	Hela-S3	cervix
6	chr8:46843800-46845200	Weak transcription	HUVEC	blood vessel
7	chr8:46843800-46845200	Weak transcription	NHEK	skin
8	chr8:46843800-46845200	Weak transcription	NHLF	lung
9	chr8:46843800-46852400	Weak transcription	NHDF-Ad	bronchial
10	chr8:46844000-46845000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:46844000-46845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:46844000-46845000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:46844000-46845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:46844000-46845000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:46844000-46845000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:46844000-46845000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:46844000-46845000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:46844000-46845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:46844000-46845000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:46844000-46845000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:46844000-46845000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:46844000-46845000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:46844000-46845000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:46844000-46845000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:46844000-46845000	Weak transcription	Fetal Lung	lung
26	chr8:46844000-46845000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:46844000-46845000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:46844000-46845200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:46844000-46845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:46844000-46845200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:46844000-46845200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:46844000-46845200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:46844000-46845200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:46844000-46845200	Weak transcription	Brain Germinal Matrix	brain
35	chr8:46844000-46845200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:46844000-46845200	Weak transcription	Fetal Brain Female	brain
37	chr8:46844000-46845200	Weak transcription	Fetal Kidney	kidney
38	chr8:46844000-46845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:46844000-46845200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:46844800-46845600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr8:46844800-46845600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr8:46844800-46845600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:46844800-46845600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr8:46844800-46845600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:46844800-46845600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:46844800-46845600	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr8:46844800-46845600	ZNF genes & repeats	Left Ventricle	heart
48	chr8:46844800-46845600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
49	chr8:46844800-46845600	ZNF genes & repeats	HepG2	liver
50	chr8:46844800-46845800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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