Variant report

Variant	rs1358472
Chromosome Location	chr7:78914230-78914231
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10237509	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10274885	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10280554	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1071038	1.00[CEU][hapmap]
rs10808182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953834	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11773085	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706097	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1406165	0.86[CEU][hapmap]
rs1528259	0.86[CEU][hapmap]
rs1528260	0.86[CEU][hapmap]
rs1528264	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs1528268	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528276	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs1609281	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16886524	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17152178	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17152192	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17152223	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17237664	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1881293	0.83[ASN][1000 genomes]
rs1881294	0.80[ASN][1000 genomes]
rs1881298	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1881299	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2190174	0.86[CEU][hapmap]
rs6944731	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954793	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6966599	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs6974095	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73153203	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73154930	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73154978	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7778707	0.86[CEU][hapmap]
rs7811833	1.00[CEU][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv971530	chr7:78909395-78914563	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78910600-78915800	Enhancers	NHEK	skin
2	chr7:78911400-78915600	Enhancers	HMEC	breast
3	chr7:78912000-78917400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:78912000-78922200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:78912200-78914800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:78912600-78915400	Enhancers	NHDF-Ad	bronchial
7	chr7:78912800-78915800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:78913000-78915400	Enhancers	Osteobl	bone
9	chr7:78913400-78920600	Weak transcription	HUVEC	blood vessel
10	chr7:78913600-78915400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:78913800-78914600	Weak transcription	NHLF	lung
12	chr7:78913800-78914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:78913800-78914800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:78913800-78914800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:78913800-78919800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:78913800-78920000	Weak transcription	NH-A	brain
17	chr7:78913800-78922400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:78913800-78923000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:78914000-78914400	Weak transcription	A549	lung
20	chr7:78914000-78915000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:78914200-78915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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