Variant report

Variant	rs6953344
Chromosome Location	chr7:69789374-69789375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10229027	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10229155	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10234614	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10234844	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10234892	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10237530	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10237685	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10244275	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10246631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10251306	0.81[ASN][1000 genomes]
rs10251416	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10254839	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10256062	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10256186	0.82[ASN][1000 genomes]
rs10258298	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10258962	0.91[EUR][1000 genomes]
rs10277411	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280622	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10486874	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10486875	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10499812	0.82[ASN][1000 genomes]
rs10950199	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11766329	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12112638	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12155138	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12374873	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698866	0.82[ASN][1000 genomes]
rs12698877	0.85[ASN][1000 genomes]
rs12698895	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698896	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698897	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698899	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13221252	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13226923	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1357759	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1404274	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1464786	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1464787	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1464788	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1524518	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1880368	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2103132	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2222544	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280613	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2280614	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866277	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35303761	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846984	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6460541	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6460542	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6460543	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6943555	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954715	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6954837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6957740	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6967697	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6967986	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969375	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6976581	0.90[EUR][1000 genomes]
rs7781035	0.86[ASN][1000 genomes]
rs7781401	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7781727	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7787612	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788024	0.86[ASN][1000 genomes]
rs7790934	0.86[ASN][1000 genomes]
rs7792775	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7792964	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7798991	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7799308	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7808540	0.86[ASN][1000 genomes]
rs8180850	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9918496	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9918544	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv607431	chr7:69699074-69828729	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1028870	chr7:69742438-69879231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69778600-69789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:69779600-69802200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:69782800-69790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:69782800-69790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:69783000-69790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:69784400-69790800	Weak transcription	Fetal Thymus	thymus
7	chr7:69785400-69790400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:69786800-69790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:69786800-69790600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:69787000-69790400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:69787200-69790000	Weak transcription	NHEK	skin
12	chr7:69787200-69790400	Weak transcription	HMEC	breast
13	chr7:69787600-69790200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:69787800-69790600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:69788000-69790800	Weak transcription	Fetal Stomach	stomach
16	chr7:69788400-69790600	Weak transcription	Brain Angular Gyrus	brain
17	chr7:69788400-69791200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:69788800-69790800	Weak transcription	Fetal Brain Female	brain
19	chr7:69789000-69790600	Weak transcription	Fetal Brain Male	brain
20	chr7:69789200-69790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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