Variant report

Variant	esv2762786
Chromosome Location	chr9:8020572-8046450
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	chr11:107727967..107730044-chr9:8019737..8022718,2	MCF-7	breast:
2	chr11:107728772..107729298-chr9:8021237..8021737,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000110660	chromatin interactions

Extended variants
information (count: 597 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:597 , 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	rs35561855	chr9:8020572-8020573	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368541801	chr9:8020588-8020589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570560938	chr9:8020599-8020600	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542474288	chr9:8020611-8020612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562173886	chr9:8020648-8020649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529375379	chr9:8020656-8020657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541587980	chr9:8020657-8020658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375309568	chr9:8020705-8020706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146236050	chr9:8020792-8020793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74715195	chr9:8020798-8020799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181203418	chr9:8020842-8020843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200456410	chr9:8020872-8020873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147548077	chr9:8020893-8020894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138155561	chr9:8020940-8020941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549934602	chr9:8020942-8020943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185454314	chr9:8020959-8020960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531098968	chr9:8020975-8020976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189830434	chr9:8020991-8020992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567307606	chr9:8021021-8021022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs16926956	chr9:8021065-8021066	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552685740	chr9:8021069-8021070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535664656	chr9:8021123-8021124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372385229	chr9:8021131-8021132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72701881	chr9:8021191-8021192	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369420837	chr9:8021196-8021197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557186941	chr9:8021197-8021198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142651476	chr9:8021206-8021207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7861682	chr9:8021219-8021220	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554467562	chr9:8021222-8021223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150837016	chr9:8021249-8021250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370892484	chr9:8021250-8021251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533884538	chr9:8021272-8021273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559911728	chr9:8021283-8021284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs578049449	chr9:8021294-8021295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183377930	chr9:8021298-8021299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1322458	chr9:8021344-8021345	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139227894	chr9:8021379-8021380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375279221	chr9:8021403-8021404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546013391	chr9:8021441-8021442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs66917193	chr9:8021449-8021450	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187720583	chr9:8021491-8021492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191645788	chr9:8021508-8021509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571027030	chr9:8021529-8021530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538208042	chr9:8021559-8021560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542424772	chr9:8021571-8021572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10976731	chr9:8021572-8021573	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568883486	chr9:8021685-8021686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536149313	chr9:8021696-8021697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183547406	chr9:8021738-8021739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79694388	chr9:8021750-8021751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8012400-8021400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:8020000-8020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:8020200-8020600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:8022800-8027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:8025000-8025200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:8025200-8032600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:8025800-8026400	Enhancers	NH-A	brain
8	chr9:8026200-8026400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:8026200-8026400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:8026400-8027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:8026400-8028800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:8026800-8028000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:8027000-8028000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:8027200-8028000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:8027200-8028000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:8027200-8028200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:8027200-8028400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:8027400-8028000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:8027400-8028000	Enhancers	Brain Hippocampus Middle	brain
20	chr9:8027400-8028200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:8027400-8028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:8027600-8028000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:8027800-8028200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:8028000-8028400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:8028200-8033800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:8028800-8029000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr9:8029000-8030800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:8030200-8030400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:8030200-8030400	Enhancers	Fetal Heart	heart
30	chr9:8030400-8032200	Weak transcription	Fetal Heart	heart
31	chr9:8030800-8033800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr9:8032200-8032800	Enhancers	Fetal Heart	heart
33	chr9:8032600-8033200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:8033800-8034200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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