Variant report

Variant	rs4691154
Chromosome Location	chr4:166052756-166052757
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166051363..166053095-chr4:166265302..166266870,2	MCF-7	breast:
2	chr4:166052186..166053056-chr4:166264613..166265364,4	MCF-7	breast:
3	chr4:166052062..166053035-chr4:166385270..166386544,3	MCF-7	breast:
4	chr4:166052311..166053023-chr4:166265996..166266912,2	MCF-7	breast:
5	chr4:166052208..166052989-chr4:166267211..166267831,3	MCF-7	breast:
6	chr4:166052098..166053052-chr4:166385627..166386880,10	K562	blood:
7	chr4:166052536..166053051-chr4:166414159..166414766,2	MCF-7	breast:
8	chr1:151340379..151340899-chr4:166052393..166052980,3	MCF-7	breast:
9	chr4:166052342..166053351-chr4:166266832..166267864,6	MCF-7	breast:
10	chr4:166052513..166053098-chr4:166253247..166253941,2	K562	blood:
11	chr4:166052131..166053206-chr4:166263833..166265852,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143416	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs12498886	0.82[ASN][1000 genomes]
rs12510196	0.82[ASN][1000 genomes]
rs13104209	0.82[ASN][1000 genomes]
rs13106902	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13108358	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13110539	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs13111944	0.82[ASN][1000 genomes]
rs13112394	0.82[ASN][1000 genomes]
rs13112537	0.82[ASN][1000 genomes]
rs13112952	0.82[ASN][1000 genomes]
rs13119189	0.82[ASN][1000 genomes]
rs13122501	0.87[ASN][1000 genomes]
rs13122587	0.82[ASN][1000 genomes]
rs13123095	0.87[ASN][1000 genomes]
rs13126727	0.82[ASN][1000 genomes]
rs13128780	0.82[ASN][1000 genomes]
rs13136080	0.82[ASN][1000 genomes]
rs13137292	0.82[ASN][1000 genomes]
rs13137741	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13138043	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13146247	0.82[ASN][1000 genomes]
rs13149658	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.87[ASN][1000 genomes]
rs17046025	0.83[GIH][hapmap]
rs17585174	1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap]
rs1877536	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs2067044	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs34023011	0.82[ASN][1000 genomes]
rs34045034	0.82[ASN][1000 genomes]
rs34051109	0.82[ASN][1000 genomes]
rs34129863	0.82[ASN][1000 genomes]
rs34164096	0.82[ASN][1000 genomes]
rs34206311	0.82[ASN][1000 genomes]
rs34258309	0.82[ASN][1000 genomes]
rs34284687	0.82[ASN][1000 genomes]
rs34409952	0.82[ASN][1000 genomes]
rs34420662	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34454413	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34471047	0.82[ASN][1000 genomes]
rs34591542	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34718907	0.82[ASN][1000 genomes]
rs34745207	0.82[ASN][1000 genomes]
rs34764855	0.82[ASN][1000 genomes]
rs34900903	0.82[ASN][1000 genomes]
rs34982093	0.82[ASN][1000 genomes]
rs34995648	0.82[ASN][1000 genomes]
rs35201973	0.82[ASN][1000 genomes]
rs35209497	0.82[ASN][1000 genomes]
rs35221561	0.82[ASN][1000 genomes]
rs35255096	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35309983	0.82[ASN][1000 genomes]
rs35350084	0.82[ASN][1000 genomes]
rs35397148	0.82[ASN][1000 genomes]
rs35614407	0.82[ASN][1000 genomes]
rs35704070	0.82[ASN][1000 genomes]
rs35742826	0.82[ASN][1000 genomes]
rs35800737	0.82[ASN][1000 genomes]
rs35815424	0.82[ASN][1000 genomes]
rs35868545	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35926451	0.82[ASN][1000 genomes]
rs35931379	0.82[ASN][1000 genomes]
rs35934050	0.82[ASN][1000 genomes]
rs35936785	0.82[ASN][1000 genomes]
rs35937012	0.82[ASN][1000 genomes]
rs36014884	0.82[ASN][1000 genomes]
rs36061152	0.82[ASN][1000 genomes]
rs36065861	0.82[ASN][1000 genomes]
rs36101463	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs41530947	1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.82[ASN][1000 genomes]
rs4234890	1.00[CHB][hapmap]
rs4690804	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4690805	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691153	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691155	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691156	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691157	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691158	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691159	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691160	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691161	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4691164	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4691166	0.82[ASN][1000 genomes]
rs4691167	0.82[ASN][1000 genomes]
rs4691168	1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.82[ASN][1000 genomes]
rs4691170	1.00[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.82[ASN][1000 genomes]
rs55651121	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56197253	0.82[ASN][1000 genomes]
rs62352233	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62352235	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66516986	0.82[ASN][1000 genomes]
rs66824958	0.82[ASN][1000 genomes]
rs66832370	0.82[ASN][1000 genomes]
rs67055719	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67304281	0.82[ASN][1000 genomes]
rs67484468	0.82[ASN][1000 genomes]
rs67688653	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67776571	0.82[ASN][1000 genomes]
rs67786105	0.82[ASN][1000 genomes]
rs68011503	0.82[ASN][1000 genomes]
rs68102468	0.82[ASN][1000 genomes]
rs71618438	0.82[ASN][1000 genomes]
rs71618439	0.82[ASN][1000 genomes]
rs71618440	0.82[ASN][1000 genomes]
rs71618441	0.82[ASN][1000 genomes]
rs72699537	0.82[ASN][1000 genomes]
rs72699544	0.82[ASN][1000 genomes]
rs72699546	0.82[ASN][1000 genomes]
rs72699548	0.82[ASN][1000 genomes]
rs72699558	0.82[ASN][1000 genomes]
rs72699560	0.82[ASN][1000 genomes]
rs7656134	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4691154	TRIM60	cis	parietal	SCAN
rs4691154	TMEM30B	trans	brain	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166051000-166053200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:166051000-166053600	Enhancers	Primary B cells from cord blood	blood
3	chr4:166051200-166053000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:166051400-166053600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:166051400-166054000	Weak transcription	GM12878-XiMat	blood
6	chr4:166051600-166053800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:166052000-166056600	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:166052200-166053000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:166052400-166052800	Enhancers	Fetal Lung	lung
10	chr4:166052400-166053000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:166052400-166053000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:166052400-166053000	Enhancers	Fetal Brain Male	brain
13	chr4:166052400-166053600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:166052400-166054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:166052600-166052800	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:166052600-166052800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:166052600-166052800	Active TSS	Brain Hippocampus Middle	brain
18	chr4:166052600-166052800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:166052600-166052800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:166052600-166052800	Enhancers	Brain Substantia Nigra	brain
21	chr4:166052600-166052800	Bivalent Enhancer	HUVEC	blood vessel
22	chr4:166052600-166053000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:166052600-166053000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:166052600-166053000	Flanking Active TSS	Liver	Liver
25	chr4:166052600-166053000	Active TSS	Brain Angular Gyrus	brain
26	chr4:166052600-166053000	Active TSS	Brain Anterior Caudate	brain
27	chr4:166052600-166053000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr4:166052600-166053000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:166052600-166053000	Enhancers	Fetal Stomach	stomach
30	chr4:166052600-166053400	Enhancers	HepG2	liver

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