Variant report

Variant	rs10146000
Chromosome Location	chr14:67684208-67684209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66973188..66975200-chr14:67683675..67686251,2	K562	blood:
2	chr14:67681892..67685441-chr14:67688163..67690297,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171723	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10129779	1.00[CEU][hapmap]
rs10131175	1.00[CEU][hapmap]
rs10131212	1.00[CEU][hapmap]
rs10135903	1.00[CEU][hapmap]
rs10137557	1.00[CEU][hapmap]
rs10138755	1.00[CEU][hapmap]
rs10138824	1.00[CEU][hapmap]
rs10140817	1.00[CEU][hapmap]
rs10144090	1.00[CEU][hapmap]
rs10144401	1.00[CEU][hapmap]
rs10144417	1.00[CEU][hapmap]
rs10144870	0.85[AMR][1000 genomes]
rs10145586	1.00[CEU][hapmap]
rs10146663	1.00[CEU][hapmap]
rs10146722	1.00[CEU][hapmap]
rs10147852	1.00[CEU][hapmap]
rs10150902	1.00[CEU][hapmap]
rs10151464	1.00[CEU][hapmap]
rs10431718	1.00[CEU][hapmap]
rs1045060	1.00[CEU][hapmap]
rs10459453	1.00[CEU][hapmap]
rs1073607	1.00[CEU][hapmap]
rs12323494	1.00[CEU][hapmap]
rs12323911	1.00[CEU][hapmap]
rs12586552	1.00[CEU][hapmap]
rs12589091	1.00[CEU][hapmap]
rs12589218	1.00[CEU][hapmap]
rs12589671	1.00[CEU][hapmap]
rs1318914	1.00[CEU][hapmap]
rs13379142	1.00[CEU][hapmap]
rs13379368	1.00[CEU][hapmap]
rs1535491	1.00[CEU][hapmap]
rs1536271	1.00[CEU][hapmap]
rs1536272	1.00[CEU][hapmap]
rs17104109	1.00[CEU][hapmap]
rs17184217	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17248526	1.00[CEU][hapmap]
rs17248616	1.00[CEU][hapmap]
rs1885589	1.00[CEU][hapmap]
rs2031563	1.00[CEU][hapmap]
rs2057396	1.00[CEU][hapmap]
rs2146229	1.00[CEU][hapmap]
rs2146230	1.00[CEU][hapmap]
rs2236333	1.00[CEU][hapmap]
rs2274335	1.00[CEU][hapmap]
rs2274338	1.00[CEU][hapmap]
rs2296560	1.00[CEU][hapmap]
rs3759755	1.00[CEU][hapmap]
rs3818467	1.00[CEU][hapmap]
rs3818468	1.00[CEU][hapmap]
rs4058254	1.00[CEU][hapmap]
rs7149535	1.00[CEU][hapmap]
rs7152903	1.00[CEU][hapmap]
rs7156441	1.00[CEU][hapmap]
rs8006391	1.00[CEU][hapmap]
rs8006519	1.00[CEU][hapmap]
rs8007033	1.00[CEU][hapmap]
rs8007866	1.00[CEU][hapmap]
rs8008236	1.00[CEU][hapmap]
rs8008443	1.00[CEU][hapmap]
rs8008724	1.00[CEU][hapmap]
rs8009318	1.00[CEU][hapmap]
rs8014966	1.00[CEU][hapmap]
rs8015862	1.00[CEU][hapmap]
rs8016037	1.00[CEU][hapmap]
rs8021896	1.00[CEU][hapmap]
rs9743911	1.00[CEU][hapmap]

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	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10146000	ATP6V1D	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67683200-67687000	Enhancers	HSMM	muscle
2	chr14:67684000-67685400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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