Variant report

Variant	rs1347780
Chromosome Location	chr8:105669708-105669709
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	chr8:105647711..105650674-chr8:105669105..105672035,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10505059	1.00[EUR][1000 genomes]
rs10505061	1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs16871487	1.00[EUR][1000 genomes]
rs16871494	1.00[EUR][1000 genomes]
rs16871501	1.00[EUR][1000 genomes]
rs16871528	1.00[EUR][1000 genomes]
rs16871529	1.00[EUR][1000 genomes]
rs16871532	1.00[EUR][1000 genomes]
rs16871542	1.00[EUR][1000 genomes]
rs16871547	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871570	1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871659	1.00[EUR][1000 genomes]
rs4478539	1.00[EUR][1000 genomes]
rs4492340	1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[EUR][1000 genomes]
rs6468936	1.00[EUR][1000 genomes]
rs6468938	1.00[EUR][1000 genomes]
rs6468942	1.00[EUR][1000 genomes]
rs6981436	1.00[EUR][1000 genomes]
rs6981448	1.00[EUR][1000 genomes]
rs6982444	1.00[EUR][1000 genomes]
rs6982693	1.00[EUR][1000 genomes]
rs6984085	1.00[EUR][1000 genomes]
rs6984951	1.00[EUR][1000 genomes]
rs6985345	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986854	1.00[EUR][1000 genomes]
rs6988703	1.00[EUR][1000 genomes]
rs6988869	1.00[EUR][1000 genomes]
rs6992140	1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	1.00[EUR][1000 genomes]
rs7000469	1.00[EUR][1000 genomes]
rs7005906	1.00[EUR][1000 genomes]
rs7009946	1.00[EUR][1000 genomes]
rs7010175	1.00[EUR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813227	1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[EUR][1000 genomes]
rs7814211	1.00[EUR][1000 genomes]
rs7814284	1.00[EUR][1000 genomes]
rs7815131	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7815196	1.00[EUR][1000 genomes]
rs7817448	1.00[EUR][1000 genomes]
rs7819974	1.00[EUR][1000 genomes]
rs7820450	1.00[EUR][1000 genomes]
rs7820552	1.00[EUR][1000 genomes]
rs7821042	1.00[EUR][1000 genomes]
rs7829983	1.00[EUR][1000 genomes]
rs7832076	1.00[EUR][1000 genomes]
rs7832455	1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[EUR][1000 genomes]
rs7837072	1.00[EUR][1000 genomes]
rs7837076	1.00[EUR][1000 genomes]
rs7838122	1.00[EUR][1000 genomes]
rs7839019	1.00[EUR][1000 genomes]
rs7841549	1.00[EUR][1000 genomes]
rs7842135	1.00[EUR][1000 genomes]
rs9694695	1.00[EUR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105664800-105670600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:105665400-105670600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105665600-105670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105667400-105671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:105667400-105671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:105667600-105671000	Weak transcription	HSMMtube	muscle
7	chr8:105667800-105671400	Weak transcription	NHLF	lung
8	chr8:105667800-105671600	Weak transcription	NH-A	brain
9	chr8:105667800-105674200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:105667800-105674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:105668000-105669800	Weak transcription	K562	blood
12	chr8:105668000-105671000	Weak transcription	Osteobl	bone
13	chr8:105668000-105671400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:105668000-105674400	Weak transcription	HMEC	breast
15	chr8:105668000-105674600	Weak transcription	NHEK	skin
16	chr8:105668200-105670800	Weak transcription	NHDF-Ad	bronchial
17	chr8:105668200-105671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:105668400-105671200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:105669200-105669800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:105669600-105671200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:105669600-105671200	Weak transcription	HSMM	muscle

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