Variant report

Variant	nsv6609
Chromosome Location	chr10:49770419-49778210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49761230..49763552-chr10:49773026..49775938,2	K562	blood:
2	chr10:49776005..49778776-chr10:49783670..49785755,2	K562	blood:
3	chr10:49776352..49778788-chr10:49787790..49790511,2	K562	blood:

Extended variants
information (count: 329 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147539649	chr10:49770515-49770516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550539290	chr10:49770597-49770598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562759269	chr10:49770602-49770603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529947294	chr10:49770612-49770613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148577813	chr10:49770634-49770635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142968562	chr10:49770641-49770642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188807627	chr10:49770645-49770646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536262274	chr10:49770670-49770671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551833462	chr10:49770671-49770672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72785158	chr10:49770673-49770674	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539182372	chr10:49770684-49770685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557276216	chr10:49770692-49770693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569777728	chr10:49770726-49770727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368094407	chr10:49770740-49770741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192645086	chr10:49770791-49770792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72785159	chr10:49770816-49770817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116585405	chr10:49770824-49770825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558362501	chr10:49770848-49770849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573255049	chr10:49770861-49770862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540680061	chr10:49770863-49770864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565365479	chr10:49770976-49770977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185035477	chr10:49771001-49771002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544344802	chr10:49771055-49771056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562561470	chr10:49771056-49771057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10776616	chr10:49771064-49771065	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540493569	chr10:49771091-49771092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554044941	chr10:49771096-49771097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73300223	chr10:49771116-49771117	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11101385	chr10:49771150-49771151	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527288387	chr10:49771183-49771184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558735630	chr10:49771233-49771234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55749457	chr10:49771256-49771257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551765801	chr10:49771262-49771263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10857597	chr10:49771263-49771264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10776617	chr10:49771277-49771278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34270372	chr10:49771289-49771290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551118128	chr10:49771310-49771311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531869571	chr10:49771321-49771322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569334719	chr10:49771333-49771334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147219209	chr10:49771339-49771340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180842510	chr10:49771346-49771347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573617302	chr10:49771362-49771363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376222802	chr10:49771384-49771385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558686832	chr10:49771395-49771396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577242388	chr10:49771430-49771431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377283248	chr10:49771442-49771443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556654090	chr10:49771460-49771461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368723995	chr10:49771482-49771483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527485493	chr10:49771496-49771497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184592250	chr10:49771525-49771526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
2	chr10:49751200-49771600	Weak transcription	Pancreas	Pancrea
3	chr10:49757400-49782200	Weak transcription	HSMMtube	muscle
4	chr10:49761600-49780600	Weak transcription	HUVEC	blood vessel
5	chr10:49762600-49772600	Weak transcription	Brain Angular Gyrus	brain
6	chr10:49763200-49780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:49763800-49772600	Weak transcription	Brain Substantia Nigra	brain
8	chr10:49764400-49777800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:49765000-49773400	Weak transcription	NHLF	lung
10	chr10:49765000-49776400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:49765400-49774000	Weak transcription	NHDF-Ad	bronchial
12	chr10:49766000-49776800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:49766200-49772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:49767400-49770600	Strong transcription	HSMM	muscle
15	chr10:49767400-49772000	Weak transcription	Osteobl	bone
16	chr10:49767600-49770600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:49769200-49771200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:49769800-49771600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:49770000-49775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:49770400-49770800	Strong transcription	NH-A	brain
21	chr10:49770400-49771200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:49770600-49771000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr10:49770600-49773400	Weak transcription	HSMM	muscle
24	chr10:49770800-49777400	Weak transcription	NH-A	brain
25	chr10:49771000-49771800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:49771200-49772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:49771200-49772600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:49771600-49779000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:49771800-49780200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr10:49772000-49776800	Strong transcription	Osteobl	bone
31	chr10:49772200-49773200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:49772200-49773200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:49772400-49773600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr10:49772600-49773000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:49772600-49773000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr10:49772600-49773200	Enhancers	Brain Angular Gyrus	brain
37	chr10:49772600-49773200	Enhancers	Brain Substantia Nigra	brain
38	chr10:49772600-49773400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:49772600-49775200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:49772800-49773400	Enhancers	Brain Hippocampus Middle	brain
41	chr10:49773000-49782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:49773000-49787400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:49773200-49774000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:49773200-49776200	Weak transcription	Brain Substantia Nigra	brain
45	chr10:49773200-49787800	Weak transcription	Brain Angular Gyrus	brain
46	chr10:49773400-49774400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:49773400-49778000	Strong transcription	NHLF	lung
48	chr10:49773400-49786200	Weak transcription	Brain Hippocampus Middle	brain
49	chr10:49773400-49786600	Strong transcription	HSMM	muscle
50	chr10:49773600-49779400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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