Variant report

Variant	rs2701653
Chromosome Location	chr12:66581885-66581886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66561525..66563608-chr12:66580703..66583177,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10459263	0.92[GIH][hapmap]
rs10506479	0.93[GIH][hapmap]
rs10878379	0.93[GIH][hapmap]
rs10878388	0.93[GIH][hapmap]
rs11176051	0.93[GIH][hapmap]
rs11176058	0.93[GIH][hapmap]
rs1152888	1.00[MEX][hapmap];0.83[TSI][hapmap]
rs1168736	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1168739	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1168744	0.93[GIH][hapmap];0.86[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1168757	0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168758	0.86[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1168760	0.82[CHB][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1168761	0.82[AMR][1000 genomes]
rs1168772	0.86[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1179914	0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1185253	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1185630	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs12230800	0.93[GIH][hapmap]
rs12306484	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12578364	0.82[ASN][1000 genomes]
rs12578752	0.82[ASN][1000 genomes]
rs12578801	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs12578994	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12814331	0.82[ASN][1000 genomes]
rs12814606	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12823414	0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs1370129	0.93[GIH][hapmap]
rs1625441	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17245364	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1732875	0.90[ASN][1000 genomes]
rs1732893	0.82[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17825931	0.83[JPT][hapmap]
rs1797404	0.95[CHD][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs1797410	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1921080	0.93[GIH][hapmap]
rs1921082	0.81[CHB][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2576183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2701644	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2701655	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2917598	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35187440	0.82[ASN][1000 genomes]
rs35971570	0.82[ASN][1000 genomes]
rs36073795	0.82[ASN][1000 genomes]
rs737614	0.91[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2701653	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66579600-66582400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:66580600-66582400	Enhancers	Primary B cells from cord blood	blood
3	chr12:66580600-66583000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:66580800-66582200	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:66580800-66582200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:66581000-66582400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:66581400-66582400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:66581400-66582600	Weak transcription	Right Atrium	heart
9	chr12:66581400-66582600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:66581600-66583000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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