Variant report

Variant	esv16868
Chromosome Location	chr8:19854644-19855520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19845716..19848259-chr8:19851738..19854660,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2410620	chr8:19854660-19854661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144679463	chr8:19854681-19854682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2410621	chr8:19854682-19854683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575711216	chr8:19854690-19854691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192286405	chr8:19854700-19854701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138428733	chr8:19854707-19854708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148985667	chr8:19854712-19854713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552775926	chr8:19854737-19854738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369124528	chr8:19854748-19854749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2410622	chr8:19854773-19854774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs538531785	chr8:19854778-19854779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556965462	chr8:19854814-19854815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10217035	chr8:19854819-19854820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183334784	chr8:19854830-19854831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554704757	chr8:19854844-19854845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188077207	chr8:19854871-19854872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540014696	chr8:19854883-19854884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2410623	chr8:19854889-19854890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111865917	chr8:19854909-19854910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577035467	chr8:19854926-19854927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192522786	chr8:19854935-19854936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547358177	chr8:19854954-19854955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143756761	chr8:19854975-19854976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530014466	chr8:19854991-19854992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376595658	chr8:19855000-19855001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17411113	chr8:19855006-19855007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560372900	chr8:19855007-19855008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527792583	chr8:19855010-19855011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552447483	chr8:19855024-19855025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78704858	chr8:19855029-19855030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79734126	chr8:19855030-19855031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184389042	chr8:19855067-19855068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374667076	chr8:19855127-19855128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73606088	chr8:19855134-19855135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536246536	chr8:19855175-19855176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73606089	chr8:19855180-19855181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34564316	chr8:19855221-19855222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17411126	chr8:19855272-19855273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs189713177	chr8:19855285-19855286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576953185	chr8:19855303-19855304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192748605	chr8:19855304-19855305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17411133	chr8:19855331-19855332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17489373	chr8:19855344-19855345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542661662	chr8:19855349-19855350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541779595	chr8:19855422-19855423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112752412	chr8:19855465-19855466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184095702	chr8:19855492-19855493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17091926	chr8:19855497-19855498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:117)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19852400-19855000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19852400-19855000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:19854200-19855800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:19854200-19856400	Enhancers	Brain Hippocampus Middle	brain
5	chr8:19855000-19855400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:19855000-19855400	Enhancers	Brain Anterior Caudate	brain
7	chr8:19855000-19855800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:19855200-19856000	Enhancers	Brain Substantia Nigra	brain

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