Variant report

Variant	esv2764191
Chromosome Location	chr10:61364074-61366495
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	chr10:61363138..61365267-chr10:61366701..61368651,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144781348	chr10:61364126-61364127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548587011	chr10:61364174-61364175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148546412	chr10:61364198-61364199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145401969	chr10:61364237-61364238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549986431	chr10:61364315-61364316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566414261	chr10:61364338-61364339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527283641	chr10:61364361-61364362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571362095	chr10:61364372-61364373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2393559	chr10:61364378-61364379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147670324	chr10:61364393-61364394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370975066	chr10:61364402-61364403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142325685	chr10:61364403-61364404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535880848	chr10:61364454-61364455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533463692	chr10:61364472-61364473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111373091	chr10:61364509-61364510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113640788	chr10:61364526-61364527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7919042	chr10:61364545-61364546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552323074	chr10:61364564-61364565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7922399	chr10:61364590-61364591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75498983	chr10:61364725-61364726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151230084	chr10:61364775-61364776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568332827	chr10:61364862-61364863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559624957	chr10:61364901-61364902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530193854	chr10:61364902-61364903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548648576	chr10:61364985-61364986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140386390	chr10:61365000-61365001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371290885	chr10:61365008-61365009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530883933	chr10:61365047-61365048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531842991	chr10:61365099-61365100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150361619	chr10:61365102-61365103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12415404	chr10:61365105-61365106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538468743	chr10:61365121-61365122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12416613	chr10:61365147-61365148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565467481	chr10:61365152-61365153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35710625	chr10:61365181-61365182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554186345	chr10:61365184-61365185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201077246	chr10:61365210-61365211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199516106	chr10:61365211-61365212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200390229	chr10:61365212-61365213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575641993	chr10:61365214-61365215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77245835	chr10:61365215-61365216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34101737	chr10:61365216-61365217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397949906	chr10:61365220-61365221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537006378	chr10:61365232-61365233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34414463	chr10:61365281-61365282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs16913829	chr10:61365306-61365307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541290736	chr10:61365310-61365311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183664755	chr10:61365318-61365319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11815865	chr10:61365321-61365322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575026357	chr10:61365349-61365350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61355600-61366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:61362000-61368600	Weak transcription	Placenta	Placenta
3	chr10:61365000-61365200	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr10:61366000-61366600	Enhancers	Fetal Brain Male	brain
5	chr10:61366000-61367000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:61366000-61367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:61366000-61367400	Enhancers	Brain Germinal Matrix	brain
8	chr10:61366200-61366600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr10:61366200-61366600	Enhancers	HSMMtube	muscle
10	chr10:61366200-61366600	Enhancers	NH-A	brain
11	chr10:61366200-61366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:61366200-61366800	Enhancers	Fetal Heart	heart
13	chr10:61366200-61367000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:61366200-61367000	Enhancers	Hela-S3	cervix
15	chr10:61366200-61369000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:61366400-61366600	Enhancers	Fetal Intestine Small	intestine
17	chr10:61366400-61366800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr10:61366400-61368400	Enhancers	Fetal Intestine Large	intestine

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