Variant report

Variant	rs2954031
Chromosome Location	chr8:126491733-126491734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126441090..126444547-chr8:126489407..126493139,4	MCF-7	breast:
2	chr8:126440471..126443261-chr8:126490513..126492965,2	K562	blood:
3	chr8:126490852..126493614-chr8:126495231..126496917,2	K562	blood:
4	chr8:126487201..126489383-chr8:126491210..126493652,2	K562	blood:
5	chr8:126487883..126490527-chr8:126491210..126493645,2	K562	blood:
6	chr8:126490839..126493464-chr8:126493478..126495853,2	MCF-7	breast:
7	chr8:126440590..126444026-chr8:126489711..126492773,5	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10808546	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17321515	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2001844	0.93[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2001846	0.84[ASN][1000 genomes]
rs2001945	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2954017	0.80[ASN][1000 genomes]
rs2954019	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2954021	0.86[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2954022	0.96[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2954029	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980853	0.92[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980854	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2980855	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs2980856	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2980860	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980868	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980869	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980871	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2980875	0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980882	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980886	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982502	0.84[ASN][1000 genomes]
rs6982636	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6999569	0.82[EUR][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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3345362	chr8:126489195-126491743	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126483000-126498200	Weak transcription	Right Atrium	heart
2	chr8:126483400-126496600	Weak transcription	Hela-S3	cervix
3	chr8:126487200-126492400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:126487600-126491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:126487600-126492000	Weak transcription	NHEK	skin
6	chr8:126487600-126493200	Weak transcription	HMEC	breast
7	chr8:126487600-126496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:126488000-126497200	Weak transcription	Liver	Liver
9	chr8:126489600-126493400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:126491400-126492000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:126491400-126492000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:126491600-126491800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr8:126491600-126493600	Enhancers	Primary neutrophils fromperipheralblood	blood

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