Variant report

Variant	rs1158471
Chromosome Location	chr8:121277396-121277397
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	chr8:121265001..121267292-chr8:121277170..121279502,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088126	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098327	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10106845	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10107534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10110786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17236463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17237275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17833361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17833457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17833992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1993389	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28377018	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28465286	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28521120	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28569909	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56311349	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62527048	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62527051	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62527054	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73329094	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7357581	0.97[EUR][1000 genomes];0.82[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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121254600-121278400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:121254800-121278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:121255400-121278400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:121262800-121283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:121265800-121278600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:121267800-121283400	Weak transcription	Aorta	Aorta
7	chr8:121270800-121277600	Weak transcription	HSMMtube	muscle
8	chr8:121271200-121283600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:121272600-121283800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:121273000-121281400	Weak transcription	Left Ventricle	heart
11	chr8:121273200-121279800	Weak transcription	Placenta	Placenta
12	chr8:121275400-121277400	Enhancers	Colon Smooth Muscle	Colon
13	chr8:121275600-121293400	Weak transcription	Fetal Stomach	stomach
14	chr8:121275800-121278200	Weak transcription	Fetal Kidney	kidney
15	chr8:121275800-121278200	Weak transcription	Psoas Muscle	Psoas
16	chr8:121275800-121282200	Weak transcription	Ovary	ovary
17	chr8:121275800-121283000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:121276000-121282400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:121276200-121278400	Weak transcription	Osteobl	bone
20	chr8:121276200-121284000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:121276400-121277400	Genic enhancers	Fetal Lung	lung
22	chr8:121276600-121278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121276600-121280000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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