Variant report

Variant	nsv982321
Chromosome Location	chr9:95301514-95302375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr9:95301821-95302102	HepG2	liver:	n/a	chr9:95301957-95301972 chr9:95301957-95301972 chr9:95301959-95301971 chr9:95301957-95301972 chr9:95301958-95301972 chr9:95301958-95301971 chr9:95301959-95301971 chr9:95301976-95301991 chr9:95301957-95301972

Variant related genes	Relation type
ENSG00000225551	TF binding region
ECM2	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117813563	chr9:95301522-95301523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141548618	chr9:95301549-95301550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545113503	chr9:95301551-95301552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546359534	chr9:95301613-95301614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531729231	chr9:95301624-95301625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13296623	chr9:95301627-95301628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs530656650	chr9:95301690-95301691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116502378	chr9:95301706-95301707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192813708	chr9:95301707-95301708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547556053	chr9:95301742-95301743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565913385	chr9:95301831-95301832	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs560859935	chr9:95301832-95301833	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs555033908	chr9:95301884-95301885	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs145332018	chr9:95301950-95301951	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs185314289	chr9:95301957-95301958	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs187836886	chr9:95301974-95301975	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs556190854	chr9:95302013-95302014	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs566655503	chr9:95302031-95302032	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs529148090	chr9:95302050-95302051	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs577832457	chr9:95302154-95302155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528435937	chr9:95302200-95302201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72754447	chr9:95302261-95302262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571644194	chr9:95302290-95302291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572262205	chr9:95302371-95302372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95296000-95301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:95297400-95304600	Weak transcription	Left Ventricle	heart
3	chr9:95299000-95301600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:95299400-95304200	Weak transcription	Ovary	ovary
5	chr9:95299800-95301600	Enhancers	HSMM	muscle
6	chr9:95300000-95301600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:95300400-95304800	Weak transcription	Fetal Intestine Small	intestine
8	chr9:95300600-95301600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:95300800-95302200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:95301000-95301600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:95301000-95302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr9:95301000-95302000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:95301000-95302000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:95301000-95302200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:95301400-95302000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:95301400-95303800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr9:95301400-95303800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:95301400-95305000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:95301800-95302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:95302000-95320800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:95302200-95303000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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