Variant report

Variant	esv275132
Chromosome Location	chr1:10656324-10657912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10653864..10655811-chr1:10657249..10659263,2	MCF-7	breast:
2	chr1:10656392..10660259-chr1:10661740..10664446,4	MCF-7	breast:
3	chr1:10657337..10659085-chr1:10685902..10688707,2	MCF-7	breast:
4	chr1:10657418..10659928-chr1:10958878..10962184,3	MCF-7	breast:
5	chr1:10655095..10656837-chr1:10658126..10659763,2	K562	blood:
6	chr1:10655023..10657893-chr1:10665049..10667461,2	K562	blood:
7	chr1:10651916..10653632-chr1:10656825..10658419,2	MCF-7	breast:
8	chr1:10656580..10658431-chr1:10672965..10675742,2	K562	blood:
9	chr1:10644062..10646561-chr1:10657195..10659839,2	MCF-7	breast:

No data

Extended variants
information (count: 54 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs284268	chr1:10656324-10656325	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6657808	chr1:10656335-10656336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs284267	chr1:10656351-10656352	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs531586831	chr1:10656370-10656371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549829722	chr1:10656379-10656380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564842941	chr1:10656387-10656388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115000081	chr1:10656431-10656432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547445598	chr1:10656432-10656433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145866346	chr1:10656455-10656456	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138726853	chr1:10656465-10656466	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6681793	chr1:10656527-10656528	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567781852	chr1:10656612-10656613	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538494348	chr1:10656621-10656622	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556563687	chr1:10656636-10656637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577945608	chr1:10656654-10656655	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76171011	chr1:10656664-10656665	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373798859	chr1:10656715-10656716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189809477	chr1:10656728-10656729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71643097	chr1:10656739-10656740	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572167372	chr1:10656756-10656757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542758925	chr1:10656762-10656763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182026286	chr1:10656817-10656818	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6673483	chr1:10656827-10656828	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543638782	chr1:10656913-10656914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547525695	chr1:10656927-10656928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565157710	chr1:10657009-10657010	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532498568	chr1:10657199-10657200	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs61776270	chr1:10657228-10657229	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186365341	chr1:10657253-10657254	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559391372	chr1:10657288-10657289	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150722274	chr1:10657312-10657313	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529764059	chr1:10657383-10657384	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs17035406	chr1:10657384-10657385	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373187558	chr1:10657418-10657419	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531789661	chr1:10657430-10657431	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550006709	chr1:10657445-10657446	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571598708	chr1:10657456-10657457	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs284266	chr1:10657467-10657468	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536605733	chr1:10657513-10657514	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553704389	chr1:10657514-10657515	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565962598	chr1:10657579-10657580	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138070437	chr1:10657585-10657586	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545115536	chr1:10657600-10657601	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs72857078	chr1:10657604-10657605	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534165505	chr1:10657616-10657617	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550083265	chr1:10657656-10657657	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543251537	chr1:10657662-10657663	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190900014	chr1:10657681-10657682	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368521302	chr1:10657716-10657717	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs35028629	chr1:10657750-10657751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
9	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:10638400-10657400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:10638400-10661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:10638600-10661600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:10639800-10659200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:10640400-10656600	Weak transcription	Placenta	Placenta
15	chr1:10644200-10683400	Weak transcription	K562	blood
16	chr1:10649400-10657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:10650000-10659200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:10650200-10670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:10651200-10659200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:10651400-10658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:10651400-10659000	Weak transcription	Dnd41	blood
22	chr1:10651400-10659200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:10651400-10672800	Weak transcription	Thymus	Thymus
24	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:10652000-10657000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:10652000-10657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:10652000-10657600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:10652000-10659000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:10652000-10659000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:10652200-10658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:10652400-10657400	Weak transcription	Adipose Nuclei	Adipose
32	chr1:10652400-10657600	Weak transcription	HSMMtube	muscle
33	chr1:10652400-10658800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:10652400-10661400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:10652400-10678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:10652800-10656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:10653000-10656400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:10653400-10660800	Weak transcription	Fetal Heart	heart
39	chr1:10653600-10657000	Weak transcription	Fetal Thymus	thymus
40	chr1:10653600-10688600	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:10654200-10658400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:10654800-10656600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:10654800-10657000	Weak transcription	Lung	lung
44	chr1:10654800-10661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:10654800-10666200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:10655000-10657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:10655000-10657400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:10655000-10657400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:10655000-10657400	Weak transcription	HepG2	liver

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