Variant report

Variant	esv3342170
Chromosome Location	chr1:10246815-10249513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553816736	chr1:10246827-10246828	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527408960	chr1:10246829-10246830	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35209131	chr1:10246837-10246838	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549080797	chr1:10246869-10246870	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567308759	chr1:10246876-10246877	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572329688	chr1:10246924-10246925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143325284	chr1:10246925-10246926	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549819361	chr1:10246929-10246930	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571486517	chr1:10246954-10246955	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538482369	chr1:10246972-10246973	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546018667	chr1:10246978-10246979	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12407991	chr1:10247021-10247022	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553963398	chr1:10247063-10247064	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192327232	chr1:10247129-10247130	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1396	chr1:10247143-10247144	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs555439938	chr1:10247175-10247176	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573702706	chr1:10247195-10247196	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183263455	chr1:10247216-10247217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556592578	chr1:10247230-10247231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578175367	chr1:10247245-10247246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545354508	chr1:10247266-10247267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544045587	chr1:10247270-10247271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560698892	chr1:10247271-10247272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572665149	chr1:10247290-10247291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561535292	chr1:10247300-10247301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56221672	chr1:10247313-10247314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560916093	chr1:10247342-10247343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186177976	chr1:10247355-10247356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549723977	chr1:10247359-10247360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190746125	chr1:10247364-10247365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532475032	chr1:10247369-10247370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547280996	chr1:10247396-10247397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565586295	chr1:10247403-10247404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535997358	chr1:10247420-10247421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549076884	chr1:10247432-10247433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182972145	chr1:10247464-10247465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537873630	chr1:10247487-10247488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200544091	chr1:10247520-10247521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556548066	chr1:10247524-10247525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570915851	chr1:10247525-10247526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577940026	chr1:10247526-10247527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188414894	chr1:10247532-10247533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192692972	chr1:10247568-10247569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572678672	chr1:10247590-10247591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543210581	chr1:10247591-10247592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143803590	chr1:10247642-10247643	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs182856258	chr1:10247644-10247645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370985733	chr1:10247645-10247646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375710635	chr1:10247653-10247654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543138420	chr1:10247656-10247657	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:75 , 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	chr1:10241000-10248800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:10241000-10249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:10241000-10252200	Weak transcription	HepG2	liver
11	chr1:10241000-10252400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:10241000-10254000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:10241000-10254200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:10241000-10254200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:10241000-10254200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:10241000-10254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:10241000-10255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:10241000-10257200	Weak transcription	Ovary	ovary
19	chr1:10241000-10258000	Weak transcription	Psoas Muscle	Psoas
20	chr1:10241200-10248200	Weak transcription	Right Ventricle	heart
21	chr1:10241200-10248400	Weak transcription	Primary T cells from cord blood	blood
22	chr1:10241200-10248600	Weak transcription	NH-A	brain
23	chr1:10241200-10249000	Weak transcription	Pancreas	Pancrea
24	chr1:10241200-10249400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:10241200-10249600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:10241200-10249800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:10241200-10254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:10241200-10254200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:10241200-10254200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:10241200-10259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:10241400-10253400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:10241400-10255600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:10241600-10247000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:10241600-10248000	Weak transcription	Esophagus	oesophagus
35	chr1:10241600-10248400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:10241600-10248400	Weak transcription	Left Ventricle	heart
37	chr1:10241600-10248600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:10241600-10249600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:10241600-10249800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:10241600-10251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:10241600-10254000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:10241600-10254000	Weak transcription	Osteobl	bone
43	chr1:10241800-10248400	Weak transcription	Liver	Liver
44	chr1:10241800-10249800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:10241800-10250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:10241800-10254000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:10242200-10248200	Weak transcription	Fetal Intestine Small	intestine
48	chr1:10243000-10248200	Weak transcription	Fetal Heart	heart
49	chr1:10243000-10249800	Weak transcription	HSMMtube	muscle
50	chr1:10244200-10256800	Weak transcription	Fetal Stomach	stomach

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