Variant report

Variant	rs6693265
Chromosome Location	chr1:59385409-59385410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59349723..59352146-chr1:59385066..59387723,2	K562	blood:
2	chr1:59368962..59371702-chr1:59384536..59386461,2	MCF-7	breast:
3	chr1:59245419..59251049-chr1:59381076..59386863,7	K562	blood:
4	chr1:59366023..59368709-chr1:59384060..59386406,2	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10158986	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10159430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889123	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207320	1.00[CEU][hapmap]
rs11207324	1.00[CEU][hapmap]
rs11207340	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207344	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11802596	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11803507	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12122077	0.80[YRI][hapmap]
rs12239208	1.00[CEU][hapmap]
rs13375549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41287670	0.81[EUR][1000 genomes]
rs57136299	0.93[EUR][1000 genomes]
rs57438070	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58237960	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58289858	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58865277	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60043252	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61414370	0.93[EUR][1000 genomes]
rs6667591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6678724	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72921508	0.93[EUR][1000 genomes]
rs72921540	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921578	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs744171	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59379600-59387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:59381400-59387200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:59382800-59387000	Weak transcription	NHEK	skin
5	chr1:59383000-59386800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:59383800-59387600	Weak transcription	Right Atrium	heart
7	chr1:59384800-59385600	Enhancers	Fetal Brain Male	brain
8	chr1:59385000-59385600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:59385000-59386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:59385000-59388800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:59385200-59385600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:59385200-59386000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:59385200-59387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:59385200-59387600	Weak transcription	Esophagus	oesophagus
15	chr1:59385200-59388000	Weak transcription	Pancreas	Pancrea
16	chr1:59385200-59390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:59385200-59397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:59385400-59386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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