Variant report

Variant	esv3416868
Chromosome Location	chr1:10512210-10512476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10507112..10511032-chr1:10511336..10515640,6	K562	blood:
2	chr1:10508493..10514342-chr1:10516490..10519388,5	K562	blood:
3	chr1:10512230..10515517-chr1:10533706..10536535,3	K562	blood:

Variant related genes	Relation type
ENSG00000203469	chromatin interactions
ENSG00000241563	chromatin interactions
ENSG00000142655	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 116 )

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	rs61776013	chr1:10512269-10512270	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540121078	chr1:10512270-10512271	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs144690367	chr1:10512271-10512272	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs2483685	chr1:10512283-10512284	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs368979903	chr1:10512288-10512289	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs71583872	chr1:10512293-10512294	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs536548458	chr1:10512324-10512325	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs546366162	chr1:10512326-10512327	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143071039	chr1:10512327-10512328	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs186884184	chr1:10512368-10512369	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs10746494	chr1:10512390-10512391	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61776014	chr1:10512426-10512427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35686983	chr1:10512429-10512430	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs142996638	chr1:10512430-10512431	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs60244340	chr1:10512448-10512449	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs558604171	chr1:10512465-10512466	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10491400-10519000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:10491400-10521000	Weak transcription	Ovary	ovary
3	chr1:10491400-10521200	Weak transcription	Aorta	Aorta
4	chr1:10491600-10516200	Weak transcription	HMEC	breast
5	chr1:10491600-10517800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:10491600-10518000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:10491600-10518000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:10491600-10519200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:10491600-10521200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:10491600-10521200	Weak transcription	Left Ventricle	heart
11	chr1:10491600-10521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:10491600-10521200	Weak transcription	Spleen	Spleen
13	chr1:10491600-10521400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:10491800-10516600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:10491800-10516600	Weak transcription	HSMM	muscle
16	chr1:10491800-10520600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:10492000-10521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:10492400-10517200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:10493600-10516800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:10494200-10518800	Weak transcription	K562	blood
21	chr1:10494200-10521400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:10495400-10519000	Weak transcription	Placenta	Placenta
23	chr1:10499200-10531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:10499400-10519200	Weak transcription	HepG2	liver
25	chr1:10499600-10518200	Weak transcription	Primary B cells from cord blood	blood
26	chr1:10500800-10522800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:10501200-10516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:10501200-10519200	Weak transcription	Liver	Liver
29	chr1:10501200-10521400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:10503400-10518000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:10503800-10518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:10505200-10519200	Weak transcription	Hela-S3	cervix
33	chr1:10505200-10520600	Weak transcription	Lung	lung
34	chr1:10505400-10514600	Weak transcription	Fetal Thymus	thymus
35	chr1:10505400-10518000	Weak transcription	Dnd41	blood
36	chr1:10506000-10514600	Weak transcription	Thymus	Thymus
37	chr1:10507000-10514400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:10507400-10517000	Weak transcription	A549	lung
39	chr1:10508600-10516000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:10508800-10521200	Weak transcription	Pancreas	Pancrea
41	chr1:10509400-10512400	Enhancers	Fetal Brain Male	brain
42	chr1:10509600-10514600	Weak transcription	Fetal Intestine Small	intestine
43	chr1:10509800-10521400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:10510000-10512400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:10510600-10514400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:10510600-10518000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:10510600-10521200	Weak transcription	Gastric	stomach
48	chr1:10510600-10521400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:10510600-10531600	Weak transcription	Right Atrium	heart
50	chr1:10511000-10512400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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