Variant report

Variant	esv1807572
Chromosome Location	chr8:10469233-10470915
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	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:

Extended variants
information (count: 200 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35602868	chr8:10469233-10469234	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199911505	chr8:10469234-10469235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535712025	chr8:10469243-10469244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372020820	chr8:10469251-10469252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370970032	chr8:10469260-10469261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555734400	chr8:10469286-10469287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572249700	chr8:10469287-10469288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376509567	chr8:10469289-10469290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62490857	chr8:10469292-10469293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372861090	chr8:10469294-10469295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151054713	chr8:10469299-10469300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375957587	chr8:10469312-10469313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193225741	chr8:10469313-10469314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369772058	chr8:10469315-10469316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372662692	chr8:10469328-10469329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543510287	chr8:10469329-10469330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201666263	chr8:10469339-10469340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57819090	chr8:10469340-10469341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185177994	chr8:10469346-10469347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377368052	chr8:10469347-10469348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542094183	chr8:10469351-10469352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190077685	chr8:10469370-10469371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373602710	chr8:10469381-10469382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377751683	chr8:10469422-10469423	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs267601691	chr8:10469426-10469427	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371254732	chr8:10469429-10469430	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529460241	chr8:10469434-10469435	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73662876	chr8:10469436-10469437	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370521287	chr8:10469437-10469438	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547631676	chr8:10469451-10469452	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181556707	chr8:10469454-10469455	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200833270	chr8:10469462-10469463	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373894974	chr8:10469463-10469464	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367955605	chr8:10469481-10469482	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533239961	chr8:10469487-10469488	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372077597	chr8:10469496-10469497	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201625937	chr8:10469530-10469531	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142446035	chr8:10469533-10469534	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202214615	chr8:10469534-10469535	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372099332	chr8:10469539-10469540	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200963001	chr8:10469547-10469548	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146670053	chr8:10469559-10469560	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200854414	chr8:10469560-10469561	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200474804	chr8:10469580-10469581	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372145840	chr8:10469588-10469589	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375370418	chr8:10469597-10469598	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369395204	chr8:10469605-10469606	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373284948	chr8:10469619-10469620	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199628229	chr8:10469625-10469626	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570063689	chr8:10469632-10469633	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	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
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
2	chr8:10468200-10470800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10469400-10470200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr8:10469400-10470400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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