Variant report

Variant	esv3337928
Chromosome Location	chr8:1224995-1227218
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	chr8:1218051..1219861-chr8:1223791..1226453,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200028216	chr8:1225027-1225028	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534608557	chr8:1225050-1225051	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149907534	chr8:1225091-1225092	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546139101	chr8:1225096-1225097	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369149371	chr8:1225098-1225099	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572279383	chr8:1225101-1225102	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540899107	chr8:1225135-1225136	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561051327	chr8:1225152-1225153	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532895029	chr8:1225158-1225159	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529853216	chr8:1225193-1225194	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543538281	chr8:1225197-1225198	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543037025	chr8:1225202-1225203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117028631	chr8:1225228-1225229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566278742	chr8:1225256-1225257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116523914	chr8:1225289-1225290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541158694	chr8:1225304-1225305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552115143	chr8:1225342-1225343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566264989	chr8:1225345-1225346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113417814	chr8:1225361-1225362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201904626	chr8:1225362-1225363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370324779	chr8:1225374-1225375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78239917	chr8:1225375-1225376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553415883	chr8:1225380-1225381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143102795	chr8:1225432-1225433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548680238	chr8:1225446-1225447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142919016	chr8:1225452-1225453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537533294	chr8:1225473-1225474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568312421	chr8:1225497-1225498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76661909	chr8:1225498-1225499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557044047	chr8:1225506-1225507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570576308	chr8:1225556-1225557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539470093	chr8:1225596-1225597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373146473	chr8:1225601-1225602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75915801	chr8:1225607-1225608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368226666	chr8:1225652-1225653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73170407	chr8:1225701-1225702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574689617	chr8:1225708-1225709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34634474	chr8:1225715-1225716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34271225	chr8:1225716-1225717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397759307	chr8:1225728-1225729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543603362	chr8:1225752-1225753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563388885	chr8:1225781-1225782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12678613	chr8:1225797-1225798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12678614	chr8:1225818-1225819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12679067	chr8:1225819-1225820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12678617	chr8:1225825-1225826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12678618	chr8:1225831-1225832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12679069	chr8:1225837-1225838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12678619	chr8:1225838-1225839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71190711	chr8:1225868-1225869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1217400-1229600	Weak transcription	Gastric	stomach
2	chr8:1223600-1225200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:1223600-1231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:1223800-1242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:1224800-1225000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1225000-1225200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1225000-1225200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:1225200-1225600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:1225200-1232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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