Variant report

Variant	esv1823729
Chromosome Location	chr9:6301157-6308178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6194592..6195131-chr9:6305762..6306590,2	MCF-7	breast:
2	chr9:6054654..6056123-chr9:6305613..6307254,7	MCF-7	breast:
3	chr9:6305170..6307719-chr9:6307772..6310215,2	K562	blood:
4	chr9:6307810..6309784-chr9:6311496..6314006,2	K562	blood:
5	chr9:6305170..6307719-chr9:6307772..6310215,2	K562	blood:
6	chr9:6196840..6197620-chr9:6306018..6306519,2	MCF-7	breast:
7	chr9:6055397..6056252-chr9:6305741..6306569,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189191964	chr9:6301846-6301847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556123839	chr9:6301864-6301865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369289424	chr9:6301887-6301888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182424313	chr9:6301899-6301900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7855264	chr9:6301923-6301924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142379625	chr9:6301929-6301930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577223209	chr9:6301934-6301935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7858373	chr9:6301948-6301949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs144676527	chr9:6301951-6301952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186543569	chr9:6301962-6301963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370073510	chr9:6301985-6301986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540418269	chr9:6302005-6302006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147907075	chr9:6302008-6302009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528410038	chr9:6302065-6302066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560329118	chr9:6302077-6302078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539105741	chr9:6302110-6302111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1407357	chr9:6302126-6302127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs192053350	chr9:6302127-6302128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532201915	chr9:6302163-6302164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148972997	chr9:6302193-6302194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568966236	chr9:6302196-6302197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536818605	chr9:6302278-6302279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1407358	chr9:6302297-6302298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs567131735	chr9:6302373-6302374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534501016	chr9:6302376-6302377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558886357	chr9:6302411-6302412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568839576	chr9:6302473-6302474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577184182	chr9:6302508-6302509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375602412	chr9:6302520-6302521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538272673	chr9:6302538-6302539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556362320	chr9:6302548-6302549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10975536	chr9:6302567-6302568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77011952	chr9:6302569-6302570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542402159	chr9:6302574-6302575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs67541153	chr9:6302609-6302610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568645120	chr9:6302623-6302624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540158200	chr9:6302774-6302775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6477067	chr9:6302794-6302795	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs199666973	chr9:6302885-6302886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181228437	chr9:6302900-6302901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553937433	chr9:6302918-6302919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550576879	chr9:6302944-6302945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562438748	chr9:6302967-6302968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529825723	chr9:6302972-6302973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548755631	chr9:6303000-6303001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567094892	chr9:6303036-6303037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534460054	chr9:6303038-6303039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552580395	chr9:6303080-6303081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185812408	chr9:6303094-6303095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570647408	chr9:6303118-6303119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6301800-6302600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:6301800-6303000	Enhancers	NHEK	skin
3	chr9:6302000-6302600	Enhancers	Brain Anterior Caudate	brain
4	chr9:6302000-6302600	Enhancers	HMEC	breast
5	chr9:6302000-6302800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:6302000-6302800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:6302000-6303000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:6302200-6302600	Enhancers	Hela-S3	cervix
9	chr9:6302200-6302800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:6302600-6305000	Weak transcription	Hela-S3	cervix
11	chr9:6305000-6305200	Enhancers	Hela-S3	cervix
12	chr9:6305200-6305600	Weak transcription	Hela-S3	cervix
13	chr9:6305600-6306400	Enhancers	Hela-S3	cervix
14	chr9:6307200-6308400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:6307400-6308200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr9:6307400-6308400	Enhancers	GM12878-XiMat	blood
17	chr9:6307800-6308800	Enhancers	HUES64 Cell Line	embryonic stem cell

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