Variant report

Variant	rs12135172
Chromosome Location	chr1:185219680-185219681
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	chr1:185217953..185220415-chr1:185284645..185286445,2	K562	blood:
2	chr1:185217201..185220197-chr1:185235782..185237394,2	K562	blood:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10218496	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10453829	0.92[CEU][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10489579	0.92[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs10489580	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs10798000	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs10798003	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10798004	0.87[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs10798006	0.82[ASN][1000 genomes]
rs10911693	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10911700	0.83[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12024023	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12028408	0.82[EUR][1000 genomes]
rs12045671	0.81[AMR][1000 genomes]
rs12096987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12118722	0.96[EUR][1000 genomes]
rs12119471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120377	0.98[EUR][1000 genomes]
rs12127840	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135769	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12136040	0.86[ASN][1000 genomes]
rs12404187	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs1336752	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs1336753	0.86[ASN][1000 genomes]
rs1415072	0.92[CEU][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1591585	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1889976	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1969750	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2025227	0.82[EUR][1000 genomes]
rs2050566	0.92[CEU][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2095610	0.85[ASN][1000 genomes]
rs2146328	0.92[CEU][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2383269	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34611062	0.86[ASN][1000 genomes]
rs3766717	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57731138	0.86[EUR][1000 genomes]
rs57977436	0.86[ASN][1000 genomes]
rs6424972	0.92[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6424974	0.96[EUR][1000 genomes]
rs6424975	0.95[JPT][hapmap]
rs6660169	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6666742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6670117	0.85[AMR][1000 genomes]
rs6673303	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6682891	0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6698109	0.92[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs6698122	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7512245	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7512290	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs7522617	0.81[EUR][1000 genomes]
rs7533198	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7535064	0.98[EUR][1000 genomes]
rs7535261	0.94[EUR][1000 genomes]
rs7537341	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7539575	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7539658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7542721	0.86[ASN][1000 genomes]
rs7543962	0.92[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs7550586	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs7550599	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7552662	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7553819	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7556183	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs951428	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.96[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:185197600-185220400	Weak transcription	Ovary	ovary
5	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
7	chr1:185218000-185219800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:185218200-185219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:185218800-185219800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
11	chr1:185219200-185219800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:185219600-185219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:185219600-185219800	Enhancers	K562	blood
14	chr1:185219600-185226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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