Variant report

Variant	esv3353192
Chromosome Location	chr10:45383970-45384390
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	chr10:45382469..45386728-chr10:45387327..45390738,4	K562	blood:
2	chr10:45379700..45381964-chr10:45383952..45385885,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138981834	chr10:45383970-45383971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141626562	chr10:45383987-45383988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2065466	chr10:45384047-45384048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs377683798	chr10:45384064-45384065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562907959	chr10:45384065-45384066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12572783	chr10:45384068-45384069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181425827	chr10:45384081-45384082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185664536	chr10:45384086-45384087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189203808	chr10:45384096-45384097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545390967	chr10:45384134-45384135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546439393	chr10:45384143-45384144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570963699	chr10:45384208-45384209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538737033	chr10:45384335-45384336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145396906	chr10:45384341-45384342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78455504	chr10:45384361-45384362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535895933	chr10:45384362-45384363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555285645	chr10:45384388-45384389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45375200-45398600	Weak transcription	Right Atrium	heart
2	chr10:45375800-45384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:45376200-45389600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:45381800-45384800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:45383600-45387200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr10:45383800-45385800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr10:45384200-45384400	Enhancers	Fetal Intestine Small	intestine
8	chr10:45384200-45385000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:45384200-45387000	Enhancers	Duodenum Mucosa	Duodenum
10	chr10:45384200-45387200	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links