Variant report

Variant	esv2764175
Chromosome Location	chr9:7226519-7237880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
2	chr9:7094001..7094660-chr9:7234238..7234769,2	MCF-7	breast:
3	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
4	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
5	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
6	chr9:7052501..7053186-chr9:7233839..7234508,2	MCF-7	breast:

Extended variants
information (count: 512 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10976131	chr9:7226519-7226520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143617748	chr9:7226535-7226536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28435465	chr9:7226536-7226537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138101623	chr9:7226616-7226617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182973884	chr9:7226663-7226664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570551183	chr9:7226687-7226688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540491453	chr9:7226709-7226710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569965920	chr9:7226717-7226718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186473146	chr9:7226730-7226731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568956013	chr9:7226748-7226749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556093346	chr9:7226750-7226751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529721560	chr9:7226783-7226784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2770701	chr9:7226794-7226795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs566175943	chr9:7226817-7226818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538112164	chr9:7226859-7226860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558833311	chr9:7226862-7226863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560137702	chr9:7226888-7226889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538451917	chr9:7226956-7226957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191296558	chr9:7226975-7226976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2820956	chr9:7226997-7226998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10119029	chr9:7227002-7227003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554307546	chr9:7227033-7227034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572516549	chr9:7227034-7227035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182617414	chr9:7227064-7227065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565181426	chr9:7227069-7227070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2770702	chr9:7227074-7227075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544411874	chr9:7227094-7227095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562577711	chr9:7227097-7227098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372639881	chr9:7227176-7227177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373201725	chr9:7229210-7229211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11792446	chr9:7229211-7229212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11793854	chr9:7229214-7229215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145007632	chr9:7229215-7229216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542196496	chr9:7229216-7229217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528532188	chr9:7229230-7229231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548954572	chr9:7229239-7229240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546674153	chr9:7229249-7229250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531833276	chr9:7229302-7229303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564968853	chr9:7229311-7229312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532400825	chr9:7229339-7229340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562413550	chr9:7229383-7229384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10117675	chr9:7229427-7229428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569811606	chr9:7229438-7229439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537270671	chr9:7229443-7229444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549162537	chr9:7229470-7229471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146948670	chr9:7229471-7229472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567450939	chr9:7229484-7229485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534733320	chr9:7229487-7229488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553099921	chr9:7229512-7229513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117558154	chr9:7229527-7229528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7225000-7227200	Enhancers	Fetal Thymus	thymus
2	chr9:7225400-7227200	Enhancers	Primary T cells from cord blood	blood
3	chr9:7225600-7226800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr9:7226000-7226600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr9:7226000-7226800	Enhancers	Dnd41	blood
6	chr9:7226000-7227000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr9:7226400-7227200	Enhancers	Thymus	Thymus
8	chr9:7226600-7226800	Enhancers	Primary hematopoietic stem cells	blood
9	chr9:7226800-7227000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr9:7227000-7227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:7229200-7238000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:7229400-7229600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:7231000-7231200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:7231200-7233600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:7231200-7239400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:7231200-7239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:7231800-7235200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:7233600-7235800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:7233800-7234000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr9:7233800-7235000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:7234000-7234200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:7234000-7234200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:7234000-7234200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:7234000-7234400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:7234000-7235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:7234000-7238000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr9:7234200-7235200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:7234200-7235200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:7234200-7239800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:7234400-7234800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:7234800-7235200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:7234800-7235800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:7234800-7236000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:7235000-7235600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr9:7235200-7235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:7235200-7235600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:7235200-7235800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr9:7235200-7235800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr9:7235600-7235800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:7235600-7236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7235600-7238000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:7235600-7239400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr9:7235800-7238000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:7235800-7238000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:7235800-7238200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:7235800-7239400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:7236000-7236400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:7236200-7238800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:7236400-7236600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:7236600-7237400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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