Variant report

Variant	esv1799175
Chromosome Location	chr8:20258303-20270849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 450 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77496133	chr8:20260213-20260214	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs189272787	chr8:20260217-20260218	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs141346036	chr8:20260218-20260219	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs368710308	chr8:20260259-20260260	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539575710	chr8:20260266-20260267	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs373145349	chr8:20260293-20260294	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs180901767	chr8:20260299-20260300	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs186511635	chr8:20260302-20260303	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546346560	chr8:20260343-20260344	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566266327	chr8:20260345-20260346	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs534107256	chr8:20260351-20260352	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs555792703	chr8:20260353-20260354	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs117174011	chr8:20260391-20260392	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs4922186	chr8:20261074-20261075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4922187	chr8:20261085-20261086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183273648	chr8:20261093-20261094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9325868	chr8:20261105-20261106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558760133	chr8:20261112-20261113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573488099	chr8:20261133-20261134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188776780	chr8:20261221-20261222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570956563	chr8:20261251-20261252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6981927	chr8:20261262-20261263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545350662	chr8:20261275-20261276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143020047	chr8:20261296-20261297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115283823	chr8:20261308-20261309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549480437	chr8:20261336-20261337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59651278	chr8:20261350-20261351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138541175	chr8:20261443-20261444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142218244	chr8:20261465-20261466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371028571	chr8:20261466-20261467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10093922	chr8:20261488-20261489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539077944	chr8:20261512-20261513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557709365	chr8:20261527-20261528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569529850	chr8:20261561-20261562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192555738	chr8:20261566-20261567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145903943	chr8:20261569-20261570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182728181	chr8:20261580-20261581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76827006	chr8:20261587-20261588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138382318	chr8:20261607-20261608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188245447	chr8:20261634-20261635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117708851	chr8:20261670-20261671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563734473	chr8:20261676-20261677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575539241	chr8:20261694-20261695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543189761	chr8:20261708-20261709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561319472	chr8:20261756-20261757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79015611	chr8:20261761-20261762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547181458	chr8:20261779-20261780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565461033	chr8:20261785-20261786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556566293	chr8:20261811-20261812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532870271	chr8:20261845-20261846	Enhancers Weak transcription	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
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
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20260200-20260400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:20261000-20261400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:20261000-20263600	Enhancers	Fetal Kidney	kidney
4	chr8:20261200-20261600	Enhancers	Spleen	Spleen
5	chr8:20261400-20261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:20261600-20263000	Weak transcription	Spleen	Spleen
7	chr8:20261800-20262000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:20261800-20262200	Enhancers	Fetal Lung	lung
9	chr8:20262000-20263000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:20262200-20262600	Weak transcription	Fetal Lung	lung
11	chr8:20262200-20263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:20262200-20264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:20262400-20263400	Enhancers	Fetal Brain Male	brain
14	chr8:20262400-20263800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:20262600-20263000	Enhancers	Brain Germinal Matrix	brain
16	chr8:20262600-20263800	Enhancers	Fetal Lung	lung
17	chr8:20262800-20263400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:20262800-20263800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:20263000-20263200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:20263000-20263200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr8:20263000-20263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:20263000-20263600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:20263000-20263800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:20263000-20263800	Enhancers	Spleen	Spleen
25	chr8:20263000-20264000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:20263200-20263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:20263200-20263400	Enhancers	Brain Germinal Matrix	brain
28	chr8:20263200-20263600	Enhancers	Fetal Brain Female	brain
29	chr8:20263400-20263600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr8:20263400-20263600	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr8:20263400-20263800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:20263600-20263800	Enhancers	Brain Germinal Matrix	brain
33	chr8:20263800-20265400	Weak transcription	Spleen	Spleen
34	chr8:20263800-20269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:20265400-20266000	Enhancers	Spleen	Spleen
36	chr8:20266200-20267200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:20269000-20269400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:20269200-20270600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:20269400-20270400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:20269800-20270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:20270400-20270600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:20270800-20273600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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