Variant report

Variant	rs12098111
Chromosome Location	chr1:85765349-85765350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85763770..85765499-chr1:85767346..85769408,2	MCF-7	breast:
2	chr1:85764436..85767299-chr1:86046418..86049258,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1060843	0.85[YRI][hapmap]
rs11161581	0.87[YRI][hapmap]
rs11161587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065528	0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs12066982	0.80[ASN][1000 genomes]
rs12068389	0.80[ASN][1000 genomes]
rs12084232	0.80[ASN][1000 genomes]
rs12086970	0.80[ASN][1000 genomes]
rs12087340	0.87[YRI][hapmap];0.80[ASN][1000 genomes]
rs12095675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12098220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563515	0.85[YRI][hapmap]
rs12726649	0.85[YRI][hapmap]
rs35783363	0.80[ASN][1000 genomes]
rs6693229	0.80[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85762800-85765400	Enhancers	HSMMtube	muscle
3	chr1:85762800-85765600	Enhancers	Lung	lung
4	chr1:85763400-85765400	Enhancers	Dnd41	blood
5	chr1:85763800-85765600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:85764000-85765400	Enhancers	NH-A	brain
7	chr1:85764200-85765400	Enhancers	NHEK	skin
8	chr1:85764200-85768400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:85764400-85765600	Enhancers	HUVEC	blood vessel
10	chr1:85764400-85768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:85764400-85769000	Weak transcription	Fetal Stomach	stomach
12	chr1:85764400-85774000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:85764600-85765400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85764600-85765400	Weak transcription	Aorta	Aorta
15	chr1:85764600-85765600	Enhancers	HSMM	muscle
16	chr1:85764800-85766200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:85764800-85768800	Weak transcription	Adipose Nuclei	Adipose
18	chr1:85764800-85770400	Weak transcription	NHDF-Ad	bronchial
19	chr1:85765000-85767000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85765000-85768200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:85765000-85769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85765200-85773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:85765200-85773600	Weak transcription	HMEC	breast

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