Variant report

Variant	esv3438026
Chromosome Location	chr9:13522602-13523650
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	chr9:13520170..13523005-chr9:13523892..13526074,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961105	chr9:13522623-13522624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576142049	chr9:13522657-13522658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186373067	chr9:13522700-13522701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191184670	chr9:13522709-13522710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541988746	chr9:13522737-13522738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183017867	chr9:13522739-13522740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555412991	chr9:13522743-13522744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146952834	chr9:13522750-13522751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560777401	chr9:13522753-13522754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10961106	chr9:13522774-13522775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74457303	chr9:13522803-13522804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4741308	chr9:13522809-13522810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531610016	chr9:13522810-13522811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548247196	chr9:13522833-13522834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188552688	chr9:13522836-13522837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563705666	chr9:13522839-13522840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527823912	chr9:13522852-13522853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532887653	chr9:13522857-13522858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547272513	chr9:13522880-13522881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74728686	chr9:13522910-13522911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539339608	chr9:13522922-13522923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10961107	chr9:13522925-13522926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569642743	chr9:13522939-13522940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369318592	chr9:13522954-13522955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34114947	chr9:13523001-13523002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57908358	chr9:13523004-13523005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112603917	chr9:13523021-13523022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535447993	chr9:13523083-13523084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192815422	chr9:13523114-13523115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183038837	chr9:13523138-13523139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138052986	chr9:13523140-13523141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531851442	chr9:13523152-13523153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577401702	chr9:13523177-13523178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13283106	chr9:13523186-13523187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546142565	chr9:13523217-13523218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562862394	chr9:13523218-13523219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568662405	chr9:13523229-13523230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546738147	chr9:13523295-13523296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187732888	chr9:13523296-13523297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10756480	chr9:13523342-13523343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547907135	chr9:13523403-13523404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149402442	chr9:13523525-13523526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143764651	chr9:13523528-13523529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550055002	chr9:13523550-13523551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569977060	chr9:13523554-13523555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191364124	chr9:13523572-13523573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548995041	chr9:13523607-13523608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565706306	chr9:13523633-13523634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13493000-13526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:13520200-13524400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:13520600-13529200	Weak transcription	NHEK	skin
4	chr9:13522000-13524000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:13522000-13524000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:13522400-13523600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:13522400-13523600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:13522600-13526000	Weak transcription	Ovary	ovary
9	chr9:13522600-13526200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:13522600-13529600	Weak transcription	HUVEC	blood vessel

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