Variant report

Variant	rs10188185
Chromosome Location	chr2:54919159-54919160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54784126..54785998-chr2:54916607..54919364,2	K562	blood:
2	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:
3	chr2:54783616..54785998-chr2:54916607..54919364,3	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10169439	0.85[EUR][1000 genomes]
rs10170355	1.00[CHB][hapmap]
rs10175967	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10176359	1.00[CHB][hapmap]
rs10176445	1.00[CHB][hapmap]
rs10182836	1.00[CHB][hapmap]
rs10183867	1.00[CHB][hapmap]
rs10184128	1.00[CHB][hapmap]
rs10193692	1.00[CHB][hapmap]
rs10194108	0.82[EUR][1000 genomes]
rs10205410	1.00[CHB][hapmap]
rs10206143	1.00[CHB][hapmap]
rs10528	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs1137645	1.00[CHB][hapmap]
rs11883962	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11888644	0.81[EUR][1000 genomes]
rs11892236	1.00[CHB][hapmap]
rs11892443	1.00[CHB][hapmap]
rs11902987	1.00[CHB][hapmap]
rs11904679	0.85[CHB][hapmap]
rs12713264	1.00[CHB][hapmap]
rs12713265	1.00[CHB][hapmap]
rs12713268	1.00[CHB][hapmap]
rs12713269	1.00[CHB][hapmap]
rs12713273	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs12713276	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13021615	0.85[CHB][hapmap]
rs13386146	1.00[CHB][hapmap]
rs13391522	1.00[CHB][hapmap]
rs13391803	1.00[CHB][hapmap]
rs13399656	1.00[CHB][hapmap]
rs13403284	1.00[CHB][hapmap]
rs13428703	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs17039558	0.85[CHB][hapmap]
rs17045939	1.00[CHB][hapmap]
rs17046077	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs17046097	0.85[JPT][hapmap]
rs17046108	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17046149	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17046257	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2048370	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs2229503	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2271329	0.93[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs241661	0.81[ASN][1000 genomes]
rs3287	1.00[CHB][hapmap]
rs33946849	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34456795	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs354232	0.85[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs3739109	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs3796019	1.00[CHB][hapmap]
rs3796022	0.85[CHB][hapmap]
rs4261758	0.85[CHB][hapmap]
rs4319969	0.85[CHB][hapmap]
rs4346422	1.00[CHB][hapmap]
rs4455200	1.00[CHB][hapmap]
rs6545430	1.00[CHB][hapmap]
rs6545435	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6545440	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs6706263	1.00[CHB][hapmap]
rs6708082	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs6734445	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6734536	1.00[CHB][hapmap]
rs6740110	0.85[EUR][1000 genomes]
rs6744586	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6752720	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs6753004	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs67909358	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806653	0.81[AMR][1000 genomes]
rs7340302	1.00[CHB][hapmap]
rs7556752	1.00[CHB][hapmap]
rs7569127	1.00[CHB][hapmap]
rs7582640	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7584223	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs7599241	1.00[CHB][hapmap]
rs7608414	1.00[CHB][hapmap]
rs9917248	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10188185	EML6	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54918600-54919400	Enhancers	Fetal Intestine Small	intestine
3	chr2:54918600-54919600	Enhancers	Fetal Intestine Large	intestine
4	chr2:54918600-54919600	Enhancers	HepG2	liver
5	chr2:54918600-54919600	Enhancers	K562	blood
6	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:54918800-54919400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:54919000-54919200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:54919000-54919200	Enhancers	Stomach Mucosa	stomach
11	chr2:54919000-54919400	Enhancers	Gastric	stomach
12	chr2:54919000-54919600	Enhancers	Pancreas	Pancrea

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