Variant report

Variant	esv3356570
Chromosome Location	chr1:10249482-10252272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558913137	chr1:10249487-10249488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138988903	chr1:10249525-10249526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534451355	chr1:10249668-10249669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552644786	chr1:10249671-10249672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185326409	chr1:10249673-10249674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574096057	chr1:10249687-10249688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115029161	chr1:10249696-10249697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553730775	chr1:10249701-10249702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572243198	chr1:10249706-10249707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141192668	chr1:10249732-10249733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75950351	chr1:10249752-10249753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80232798	chr1:10249758-10249759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375767888	chr1:10249783-10249784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77528468	chr1:10249788-10249789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150755118	chr1:10249793-10249794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188233892	chr1:10249797-10249798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541540947	chr1:10249812-10249813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576538088	chr1:10249833-10249834	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376659190	chr1:10249870-10249871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs559845839	chr1:10249885-10249886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530134664	chr1:10249916-10249917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75167045	chr1:10249959-10249960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7522819	chr1:10249963-10249964	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs139003788	chr1:10249964-10249965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552824953	chr1:10250009-10250010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75803257	chr1:10250053-10250054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570757037	chr1:10250060-10250061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534840105	chr1:10250091-10250092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200589038	chr1:10250143-10250144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370363329	chr1:10250148-10250149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546296305	chr1:10250168-10250169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149457783	chr1:10250175-10250176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535453340	chr1:10250182-10250183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556718573	chr1:10250208-10250209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575169487	chr1:10250217-10250218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61288664	chr1:10250249-10250250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550508207	chr1:10250252-10250253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147207478	chr1:10250374-10250375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140598264	chr1:10250377-10250378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192953725	chr1:10250385-10250386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112357688	chr1:10250422-10250423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559909694	chr1:10250475-10250476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532444648	chr1:10250516-10250517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574865758	chr1:10250533-10250534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542292148	chr1:10250539-10250540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552216207	chr1:10250540-10250541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530930466	chr1:10250581-10250582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201338279	chr1:10250605-10250606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111818056	chr1:10250607-10250608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374190783	chr1:10250608-10250609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Neuroblastoma	20406844	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
Medullary thyroid carcinoma	18765511	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

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
2	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
3	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10236400-10258200	Weak transcription	HSMM	muscle
5	chr1:10240000-10249600	Weak transcription	GM12878-XiMat	blood
6	chr1:10240000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:10240400-10250000	Weak transcription	Fetal Brain Male	brain
8	chr1:10241000-10249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:10241000-10252200	Weak transcription	HepG2	liver
10	chr1:10241000-10252400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:10241000-10254000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:10241000-10254200	Weak transcription	Brain Anterior Caudate	brain
13	chr1:10241000-10254200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:10241000-10254200	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:10241000-10254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:10241000-10255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:10241000-10257200	Weak transcription	Ovary	ovary
18	chr1:10241000-10258000	Weak transcription	Psoas Muscle	Psoas
19	chr1:10241200-10249600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:10241200-10249800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:10241200-10254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:10241200-10254200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:10241200-10254200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:10241200-10259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:10241400-10253400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:10241400-10255600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:10241600-10249600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:10241600-10249800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:10241600-10251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:10241600-10254000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:10241600-10254000	Weak transcription	Osteobl	bone
32	chr1:10241800-10249800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:10241800-10250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:10241800-10254000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:10243000-10249800	Weak transcription	HSMMtube	muscle
36	chr1:10244200-10256800	Weak transcription	Fetal Stomach	stomach
37	chr1:10247000-10249800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:10247000-10252400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:10247200-10249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:10247200-10252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:10247200-10254200	Weak transcription	Fetal Kidney	kidney
42	chr1:10247200-10255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:10248800-10253400	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:10249400-10250000	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:10249600-10250200	Enhancers	GM12878-XiMat	blood
46	chr1:10249800-10250000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:10249800-10250000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:10249800-10250000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:10249800-10250000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:10249800-10250000	Flanking Active TSS	HSMMtube	muscle

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