Variant report

Variant	rs62153018
Chromosome Location	chr2:96876455-96876456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96873130..96877842-chr2:96924423..96928437,5	K562	blood:
2	chr2:96874739..96877160-chr2:97224414..97226899,2	K562	blood:
3	chr2:96874731..96877568-chr2:96889613..96892545,3	K562	blood:
4	chr2:96871739..96877156-chr2:96928674..96935050,17	K562	blood:
5	chr2:96871572..96876906-chr2:96928916..96935631,15	MCF-7	breast:
6	chr2:96801466..96803641-chr2:96873708..96877456,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188886	Chromatin interaction
ENSG00000135956	Chromatin interaction
ENSG00000144021	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11551400	0.86[EUR][1000 genomes]
rs12613263	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12617019	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12618133	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2276650	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3852673	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4371393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4592891	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4826	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57476471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59082429	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59664047	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60409279	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152972	1.00[ASN][1000 genomes]
rs62153010	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62153011	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153014	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62153020	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62153022	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62153029	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6576968	0.95[ASN][1000 genomes]
rs6756208	0.98[ASN][1000 genomes]
rs72825854	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825856	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825877	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73958180	1.00[ASN][1000 genomes]
rs7579709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7580178	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997547	1.00[ASN][1000 genomes]
rs997548	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62153018	CIAO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96875000-96906200	Weak transcription	Esophagus	oesophagus
2	chr2:96875200-96878000	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:96875200-96905000	Weak transcription	Aorta	Aorta
4	chr2:96875400-96879600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:96875600-96880400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:96875600-96907000	Weak transcription	Fetal Thymus	thymus
7	chr2:96875800-96876600	Enhancers	HepG2	liver
8	chr2:96875800-96876800	Weak transcription	Small Intestine	intestine
9	chr2:96875800-96884200	Weak transcription	Thymus	Thymus
10	chr2:96875800-96891000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:96875800-96905800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:96876000-96876600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:96876000-96877200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:96876000-96878200	Weak transcription	Fetal Stomach	stomach
15	chr2:96876000-96878600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:96876000-96878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:96876000-96878800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:96876000-96878800	Weak transcription	Fetal Brain Male	brain
19	chr2:96876000-96879200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:96876000-96880000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:96876000-96880000	Weak transcription	NH-A	brain
22	chr2:96876000-96880200	Weak transcription	Spleen	Spleen
23	chr2:96876000-96880600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:96876000-96880800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:96876000-96881800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:96876000-96883800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:96876000-96885400	Weak transcription	Psoas Muscle	Psoas
28	chr2:96876000-96885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:96876000-96885800	Weak transcription	Pancreas	Pancrea
30	chr2:96876000-96896200	Weak transcription	Left Ventricle	heart
31	chr2:96876000-96902400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:96876000-96904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:96876000-96905800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:96876000-96906600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:96876000-96915200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:96876200-96876800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:96876200-96877600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:96876200-96878000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:96876200-96878200	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:96876200-96878600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:96876200-96878800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:96876200-96878800	Weak transcription	Hela-S3	cervix
43	chr2:96876200-96880200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:96876200-96884000	Weak transcription	HSMMtube	muscle
45	chr2:96876200-96884200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:96876200-96885600	Weak transcription	Fetal Heart	heart
47	chr2:96876200-96885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:96876200-96886600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:96876200-96886600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:96876200-96888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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