Variant report

Variant	esv3329919
Chromosome Location	chr10:44687125-44688079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578030214	chr10:44687127-44687128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115092468	chr10:44687129-44687130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564257766	chr10:44687141-44687142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114211778	chr10:44687166-44687167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7893354	chr10:44687276-44687277	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115625561	chr10:44687298-44687299	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs180889699	chr10:44687332-44687333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs553715031	chr10:44687359-44687360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs116946819	chr10:44687390-44687391	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs372005912	chr10:44687408-44687409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183520798	chr10:44687444-44687445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188547427	chr10:44687452-44687453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551092366	chr10:44687477-44687478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569436594	chr10:44687493-44687494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541451804	chr10:44687526-44687527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181113992	chr10:44687528-44687529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75027337	chr10:44687529-44687530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535373096	chr10:44687544-44687545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553080593	chr10:44687558-44687559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78378735	chr10:44687559-44687560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2624684	chr10:44687574-44687575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540291365	chr10:44687578-44687579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114269766	chr10:44687587-44687588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74360541	chr10:44687645-44687646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149469460	chr10:44687669-44687670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374220819	chr10:44687695-44687696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11238907	chr10:44687780-44687781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186315300	chr10:44687783-44687784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192075307	chr10:44687803-44687804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118115553	chr10:44687908-44687909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371280662	chr10:44687970-44687971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531191771	chr10:44687977-44687978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546706705	chr10:44688017-44688018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144132104	chr10:44688021-44688022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550980303	chr10:44688073-44688074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44676000-44688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:44676400-44690600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:44682800-44688600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:44684800-44687400	Weak transcription	HepG2	liver
5	chr10:44686800-44687200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:44686800-44692000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:44687000-44687200	Enhancers	HSMM	muscle
8	chr10:44687000-44687600	Enhancers	NHDF-Ad	bronchial
9	chr10:44687000-44692000	Enhancers	Colon Smooth Muscle	Colon
10	chr10:44687200-44687400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:44687200-44690400	Weak transcription	HSMM	muscle
12	chr10:44687400-44690400	Enhancers	HepG2	liver
13	chr10:44687600-44688800	Weak transcription	NHDF-Ad	bronchial
14	chr10:44687800-44688000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:44688000-44690200	Enhancers	Fetal Muscle Trunk	muscle
16	chr10:44688000-44700600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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