Variant report

Variant	rs73276994
Chromosome Location	chr14:67660834-67660835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10129185	0.93[EUR][1000 genomes]
rs10130796	0.88[ASN][1000 genomes]
rs10135883	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10141180	0.90[EUR][1000 genomes]
rs10141692	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10144090	0.81[AMR][1000 genomes]
rs10144218	0.81[AMR][1000 genomes]
rs10144774	0.95[EUR][1000 genomes]
rs10145586	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10145744	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10146389	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10147852	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10150082	0.94[ASN][1000 genomes]
rs10152002	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10459453	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10459529	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10459530	0.81[AMR][1000 genomes]
rs10459531	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1073605	0.82[ASN][1000 genomes]
rs1073606	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1073607	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1078194	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10873200	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1113973	0.82[AMR][1000 genomes]
rs11158655	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158656	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12323494	0.81[AMR][1000 genomes]
rs12323793	0.81[AMR][1000 genomes]
rs12586402	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12588292	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12590065	0.90[EUR][1000 genomes]
rs12590956	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1475127	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17104103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17104106	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17104109	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17104114	0.94[ASN][1000 genomes]
rs17248456	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17836683	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1881035	0.81[ASN][1000 genomes]
rs1885590	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1918484	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2025208	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2025209	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2094162	0.95[EUR][1000 genomes]
rs28370351	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28411190	0.81[ASN][1000 genomes]
rs28522593	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3784085	0.86[EUR][1000 genomes]
rs45612334	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57266997	0.81[AMR][1000 genomes]
rs57782535	0.81[AMR][1000 genomes]
rs58257525	0.81[EUR][1000 genomes]
rs58954149	0.81[AMR][1000 genomes]
rs59472119	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59861720	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61024303	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61281789	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61612119	0.88[ASN][1000 genomes]
rs61749574	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6573758	0.89[ASN][1000 genomes]
rs6573760	0.89[ASN][1000 genomes]
rs6573769	0.93[EUR][1000 genomes]
rs66851210	0.90[EUR][1000 genomes]
rs67470433	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67968914	0.93[EUR][1000 genomes]
rs68002629	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7152903	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73279028	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73279056	0.83[ASN][1000 genomes]
rs73282707	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8003669	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8004148	0.90[ASN][1000 genomes]
rs8004488	0.89[ASN][1000 genomes]
rs8006042	0.93[EUR][1000 genomes]
rs8007866	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8009318	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8015641	0.93[EUR][1000 genomes]
rs8016024	0.84[EUR][1000 genomes]
rs8016037	0.81[AMR][1000 genomes]
rs8017301	0.81[AMR][1000 genomes]
rs8018738	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8019109	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8020850	0.93[EUR][1000 genomes]
rs8021992	0.82[AMR][1000 genomes]
rs9323496	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs960797	0.95[EUR][1000 genomes]
rs9743912	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv983938	chr14:67656148-67670777	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3340569	chr14:67658624-67661572	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
10	esv3402715	chr14:67658699-67661472	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
11	esv3339320	chr14:67659249-67660947	Flanking Active TSS Enhancers Weak transcription	TF binding region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73276994	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67655000-67661800	Weak transcription	A549	lung
2	chr14:67659000-67662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:67659200-67661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links