Variant report

Variant	esv1850214
Chromosome Location	chr8:19998154-20008345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 557 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538254126	chr8:19998171-19998172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564066946	chr8:19998196-19998197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150350234	chr8:19998208-19998209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116716811	chr8:19998222-19998223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549739707	chr8:19998246-19998247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190184243	chr8:19998260-19998261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75975437	chr8:19998304-19998305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535336659	chr8:19998307-19998308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533258540	chr8:19998350-19998351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546643599	chr8:19998363-19998364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547291400	chr8:19998365-19998366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565696698	chr8:19998367-19998368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560324018	chr8:19998373-19998374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368193859	chr8:19998382-19998383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547172069	chr8:19998385-19998386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138011580	chr8:19998445-19998446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558226873	chr8:19998516-19998517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181693480	chr8:19998532-19998533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537634647	chr8:19998590-19998591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555645778	chr8:19998640-19998641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149539871	chr8:19998662-19998663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186185677	chr8:19998673-19998674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144123932	chr8:19998731-19998732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572063600	chr8:19998738-19998739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139832529	chr8:19998741-19998742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7825235	chr8:19998770-19998771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531341808	chr8:19998781-19998782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543520688	chr8:19998782-19998783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553753639	chr8:19998783-19998784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78767080	chr8:19998784-19998785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59124897	chr8:19998798-19998799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559174840	chr8:19998803-19998804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137948704	chr8:19998816-19998817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112199415	chr8:19998820-19998821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57023003	chr8:19998822-19998823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143134342	chr8:19998825-19998826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561498311	chr8:19998832-19998833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55900816	chr8:19998840-19998841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11315356	chr8:19998845-19998846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71205962	chr8:19998849-19998850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529062671	chr8:19998915-19998916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78899324	chr8:19998928-19998929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190906082	chr8:19998948-19998949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56090699	chr8:19998949-19998950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs62498208	chr8:19998978-19998979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116525571	chr8:19999107-19999108	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73210884	chr8:19999114-19999115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576726786	chr8:19999212-19999213	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs10088489	chr8:19999229-19999230	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555835586	chr8:19999235-19999236	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19993000-19999400	Weak transcription	Esophagus	oesophagus
2	chr8:19993200-19998400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19993200-20000400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:19994200-19998200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19994200-19998200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:19994200-20003000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:19995400-19998200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:19997200-19999200	Enhancers	NHEK	skin
9	chr8:19997400-19999200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:19997400-19999800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:19997400-20000400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:19997400-20001000	Enhancers	HMEC	breast
13	chr8:19998000-19998200	Enhancers	Fetal Kidney	kidney
14	chr8:19998200-19998400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:19998200-19998600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:19998200-19998600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:19998200-19999000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:19998200-19999000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:19998200-20000600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:19998400-19998600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:19998600-19999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:19998800-19999600	Enhancers	NH-A	brain
23	chr8:19998800-19999800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:19998800-19999800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:19999000-19999200	Enhancers	HSMM	muscle
26	chr8:19999000-19999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:19999000-19999800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:19999200-19999400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:19999200-19999400	Bivalent Enhancer	Osteobl	bone
30	chr8:19999200-19999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:19999200-19999600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:19999200-19999600	Bivalent Enhancer	HSMM	muscle
33	chr8:19999200-19999600	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr8:19999200-19999800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:19999200-19999800	Flanking Active TSS	NHEK	skin
36	chr8:19999400-19999600	Bivalent Enhancer	Placenta	Placenta
37	chr8:19999400-19999600	Bivalent Enhancer	Hela-S3	cervix
38	chr8:19999400-19999800	Enhancers	Esophagus	oesophagus
39	chr8:19999600-19999800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:19999600-19999800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:19999600-20004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:19999600-20004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:19999800-20000600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:19999800-20000800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:19999800-20001000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:19999800-20002600	Enhancers	NHEK	skin
47	chr8:19999800-20003000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:19999800-20003000	Weak transcription	Esophagus	oesophagus
49	chr8:19999800-20004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:20000400-20000600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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