Variant report

Variant	rs10495180
Chromosome Location	chr1:222020712-222020713
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222000712..222003289-chr1:222019673..222021864,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17010904	0.81[EUR][1000 genomes]
rs3003899	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4846729	0.92[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr1:222014400-222022000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:222015000-222022200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:222015600-222024600	Weak transcription	HSMMtube	muscle
4	chr1:222019400-222023400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:222019600-222024400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:222019800-222023400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:222019800-222024200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222019800-222024400	Weak transcription	Esophagus	oesophagus
9	chr1:222019800-222024600	Weak transcription	NHLF	lung
10	chr1:222019800-222031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:222019800-222047600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:222020000-222022200	Weak transcription	HSMM	muscle
13	chr1:222020200-222022400	Weak transcription	NHEK	skin
14	chr1:222020200-222023400	Weak transcription	Hela-S3	cervix
15	chr1:222020200-222024400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:222020200-222029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:222020400-222024000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:222020400-222024200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:222020600-222024400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:222020600-222031600	Weak transcription	HMEC	breast

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