Variant report

Variant	esv3400205
Chromosome Location	chr9:101048307-101048621
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	chr9:101039245..101044695-chr9:101044948..101050216,8	K562	blood:
2	chr9:100745535..100747183-chr9:101047051..101049111,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136938	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 73 )

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	rs536805744	chr9:101048309-101048310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556805754	chr9:101048310-101048311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576798595	chr9:101048330-101048331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117580654	chr9:101048381-101048382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184023765	chr9:101048418-101048419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557761245	chr9:101048472-101048473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577598817	chr9:101048473-101048474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539861352	chr9:101048478-101048479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560167666	chr9:101048485-101048486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376081010	chr9:101048514-101048515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1435257	chr9:101048517-101048518	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542375548	chr9:101048521-101048522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562386578	chr9:101048543-101048544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576324613	chr9:101048580-101048581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149254078	chr9:101048593-101048594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571536160	chr9:101048621-101048622	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101037200-101051000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:101039800-101051000	Weak transcription	Fetal Intestine Small	intestine
3	chr9:101041400-101049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:101043400-101051400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:101043600-101051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:101048600-101048800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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