Variant report

Variant	rs11996174
Chromosome Location	chr8:118617940-118617941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10093803	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105834	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109140	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11991406	0.87[EUR][1000 genomes]
rs11992669	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351356	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1396347	0.92[AFR][1000 genomes]
rs1480164	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17746428	1.00[JPT][hapmap]
rs1993980	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28448285	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28473319	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs732095	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840522	0.87[EUR][1000 genomes]
rs9297567	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1028387	chr8:118602105-118640162	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118615400-118620800	Weak transcription	Hela-S3	cervix
2	chr8:118615600-118619600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:118615600-118620400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:118615600-118620800	Weak transcription	HMEC	breast
5	chr8:118615800-118620800	Weak transcription	NH-A	brain
6	chr8:118615800-118621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:118616000-118620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:118616000-118620800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:118616000-118621400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:118616000-118627400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:118616000-118630400	Weak transcription	Aorta	Aorta
12	chr8:118616200-118619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:118616200-118619000	Weak transcription	HSMMtube	muscle
14	chr8:118616200-118620600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:118616200-118620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:118616200-118620800	Weak transcription	HSMM	muscle
17	chr8:118616200-118620800	Weak transcription	NHLF	lung
18	chr8:118616600-118620800	Weak transcription	Osteobl	bone
19	chr8:118617200-118618200	Enhancers	NHDF-Ad	bronchial
20	chr8:118617400-118618200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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