Variant report

Variant	rs994970
Chromosome Location	chr1:185697425-185697426
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	chr1:185697075..185699468-chr1:185702435..185704352,2	MCF-7	breast:
2	chr1:185692201..185694286-chr1:185695758..185698283,2	K562	blood:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1124757	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11579889	0.84[EUR][1000 genomes]
rs11583092	0.84[EUR][1000 genomes]
rs11583867	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11584252	0.92[EUR][1000 genomes]
rs11587852	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11589543	0.90[EUR][1000 genomes]
rs12078015	0.89[ASN][1000 genomes]
rs12079064	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12083564	0.89[ASN][1000 genomes]
rs12085167	0.89[ASN][1000 genomes]
rs12087032	1.00[CHB][hapmap]
rs1321668	0.89[ASN][1000 genomes]
rs1321669	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1322359	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1322364	0.89[ASN][1000 genomes]
rs1358871	0.91[EUR][1000 genomes]
rs1407429	0.85[YRI][hapmap]
rs1407430	1.00[CHB][hapmap]
rs1407431	1.00[CHB][hapmap]
rs1484134	0.91[EUR][1000 genomes]
rs1484135	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552281	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824390	0.83[EUR][1000 genomes]
rs16824396	0.84[EUR][1000 genomes]
rs16824516	0.85[YRI][hapmap]
rs17445778	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs17446906	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17448216	1.00[CHB][hapmap]
rs17448230	1.00[CHB][hapmap]
rs1951517	1.00[CHB][hapmap]
rs2004324	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2170859	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2220128	0.83[ASN][1000 genomes]
rs34923020	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35425624	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs41357745	1.00[CHB][hapmap];0.89[YRI][hapmap]
rs41519044	0.96[EUR][1000 genomes]
rs4515745	0.89[ASN][1000 genomes]
rs4593772	0.89[ASN][1000 genomes]
rs4596837	0.89[ASN][1000 genomes]
rs4651287	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs55993167	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56031313	0.92[EUR][1000 genomes]
rs56238699	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57146145	0.89[EUR][1000 genomes]
rs57398679	0.83[ASN][1000 genomes]
rs58708412	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59197925	0.89[EUR][1000 genomes]
rs59253277	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59702468	0.92[EUR][1000 genomes]
rs60074235	0.89[EUR][1000 genomes]
rs60376365	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61829644	0.84[EUR][1000 genomes]
rs61829860	0.89[ASN][1000 genomes]
rs61831462	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61831464	0.92[EUR][1000 genomes]
rs61831470	0.80[EUR][1000 genomes]
rs61831480	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61831482	0.87[EUR][1000 genomes]
rs61831483	0.84[EUR][1000 genomes]
rs61831484	0.80[EUR][1000 genomes]
rs61831485	0.82[EUR][1000 genomes]
rs61831486	0.84[EUR][1000 genomes]
rs61831502	0.84[EUR][1000 genomes]
rs61831503	0.84[EUR][1000 genomes]
rs61831504	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831505	0.84[EUR][1000 genomes]
rs61831519	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831521	0.84[EUR][1000 genomes]
rs61831528	0.89[ASN][1000 genomes]
rs61831532	0.89[ASN][1000 genomes]
rs6656530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs6668606	0.90[EUR][1000 genomes]
rs6668607	0.90[EUR][1000 genomes]
rs6692602	0.91[EUR][1000 genomes]
rs72727759	0.91[EUR][1000 genomes]
rs7414598	0.89[ASN][1000 genomes]
rs7534755	0.92[EUR][1000 genomes]
rs7538168	0.92[EUR][1000 genomes]
rs7544533	0.85[YRI][hapmap]
rs7547022	0.92[EUR][1000 genomes]
rs7554903	0.96[EUR][1000 genomes]
rs900775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9286857	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs936723	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9628625	1.00[CHB][hapmap]
rs992760	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185683000-185702600	Weak transcription	Aorta	Aorta
2	chr1:185688800-185703000	Weak transcription	NH-A	brain
3	chr1:185689800-185702800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:185690400-185702800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:185697200-185702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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