Variant report

Variant	rs2007454
Chromosome Location	chr1:85079410-85079411
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85078939..85082218-chr1:85082659..85086975,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1400777	0.82[GIH][hapmap]
rs1417295	0.97[ASN][1000 genomes]
rs1850508	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850509	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911590	0.91[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2911595	0.85[EUR][1000 genomes]
rs2911598	0.81[CHB][hapmap]
rs2911603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911604	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911605	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911607	0.97[ASN][1000 genomes]
rs2911609	0.97[ASN][1000 genomes]
rs2943663	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2943669	0.84[EUR][1000 genomes]
rs2943670	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2943675	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2943676	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2943677	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2943678	0.84[EUR][1000 genomes]
rs2945138	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2945140	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945142	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945146	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945148	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945149	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945150	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945152	0.91[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945155	0.85[EUR][1000 genomes]
rs2945158	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2945160	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2994435	0.97[ASN][1000 genomes]
rs2994934	0.97[ASN][1000 genomes]
rs2994935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2994940	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2994943	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2994944	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2994946	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2994947	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6576713	0.82[GIH][hapmap];0.82[MEX][hapmap]
rs880412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85070400-85079600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85070400-85085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:85071600-85085000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:85071800-85079800	Weak transcription	Pancreas	Pancrea
5	chr1:85071800-85084800	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:85077200-85085400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:85077600-85080000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:85077800-85082400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:85078000-85084800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:85078200-85080400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:85078200-85081000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:85078400-85085200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:85078600-85082800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:85078600-85085000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:85078800-85080000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:85079000-85085000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:85079400-85080400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:85079400-85080600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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