Variant report

Variant	esv3431258
Chromosome Location	chr9:18377345-18377777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547754566	chr9:18377372-18377373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548046292	chr9:18377391-18377392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56348051	chr9:18377458-18377459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372814764	chr9:18377519-18377520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571344553	chr9:18377551-18377552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549008627	chr9:18377557-18377558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529818976	chr9:18377561-18377562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376241824	chr9:18377562-18377563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547930738	chr9:18377607-18377608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549818938	chr9:18377709-18377710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190956594	chr9:18377710-18377711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551753987	chr9:18377712-18377713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570443459	chr9:18377722-18377723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10963589	chr9:18377725-18377726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532641276	chr9:18377732-18377733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185676994	chr9:18377740-18377741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18368400-18381800	Weak transcription	Aorta	Aorta
2	chr9:18372600-18378000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:18375200-18378800	Weak transcription	HUVEC	blood vessel
4	chr9:18377400-18377600	Enhancers	Hela-S3	cervix
5	chr9:18377600-18377800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:18377600-18378600	Weak transcription	Hela-S3	cervix

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