Variant report

Variant	rs6683991
Chromosome Location	chr1:168848364-168848365
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	chr1:168847706..168850516-chr1:168873676..168876740,3	MCF-7	breast:
2	chr1:168848047..168849633-chr1:169074270..169077095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10489364	0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[TSI][hapmap]
rs10753780	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753781	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10800392	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10800393	0.85[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10919006	0.90[ASN][1000 genomes]
rs10919011	0.91[CHB][hapmap];0.98[CHD][hapmap]
rs1407477	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs1575329	0.96[ASN][1000 genomes]
rs1885557	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065129	0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[TSI][hapmap]
rs34298853	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656163	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4656622	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656624	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6427155	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6657987	0.91[CHB][hapmap];0.86[CHD][hapmap];0.83[TSI][hapmap]
rs6666564	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6683127	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6683236	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6694810	0.96[ASN][1000 genomes]
rs6702913	0.96[ASN][1000 genomes]
rs715008	0.93[ASN][1000 genomes]
rs7525262	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7544924	0.88[EUR][1000 genomes]
rs7550083	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs857633	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs857635	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv437258	chr1:168824111-168890420	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:168841600-168850400	Weak transcription	Fetal Heart	heart
2	chr1:168844800-168848600	Weak transcription	Fetal Lung	lung
3	chr1:168846000-168849200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:168846000-168849400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:168847000-168858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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