Variant report

Variant	rs6694441
Chromosome Location	chr1:197690148-197690149
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	chr1:197685201..197688463-chr1:197690125..197692928,4	K562	blood:
2	chr1:197688429..197690737-chr1:197693121..197696010,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10082059	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs13374542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28485341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57589685	1.00[AMR][1000 genomes]
rs57594005	1.00[AMR][1000 genomes]
rs59416760	1.00[AMR][1000 genomes]
rs6428420	1.00[AMR][1000 genomes]
rs6686513	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6686735	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs6688961	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs73075682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075690	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077640	0.88[AFR][1000 genomes]
rs73079634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079655	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081752	1.00[AMR][1000 genomes]
rs73081769	1.00[AMR][1000 genomes]
rs73081781	1.00[AMR][1000 genomes]
rs73081791	1.00[AMR][1000 genomes]
rs73081794	1.00[AMR][1000 genomes]
rs73083805	1.00[AMR][1000 genomes]
rs7516293	1.00[AMR][1000 genomes]
rs7519957	1.00[AMR][1000 genomes]
rs7526273	1.00[AMR][1000 genomes]
rs7528697	1.00[AMR][1000 genomes]
rs7539224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv548873	chr1:197664905-197694037	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3453738	chr1:197687700-197690857	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3453739	chr1:197687889-197690752	Weak transcription Enhancers	Chromatin interactive region	1 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	chr1:197665800-197693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197688000-197692200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:197688000-197707400	Weak transcription	Left Ventricle	heart
4	chr1:197688600-197694200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:197690000-197694200	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links