Variant report

Variant	rs2442010
Chromosome Location	chr8:99812125-99812126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12679734	0.82[EUR][1000 genomes]
rs1476181	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2028975	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2442011	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442012	0.94[EUR][1000 genomes]
rs2442013	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2442014	0.94[EUR][1000 genomes]
rs2442015	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515214	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2515215	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515216	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515219	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515221	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515224	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515225	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2922073	0.81[EUR][1000 genomes]
rs2922075	0.90[EUR][1000 genomes]
rs2922078	0.90[EUR][1000 genomes]
rs2922081	0.90[EUR][1000 genomes]
rs2922082	0.82[EUR][1000 genomes]
rs3019293	0.92[EUR][1000 genomes]
rs4131873	0.81[EUR][1000 genomes]
rs4255105	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4304299	0.94[EUR][1000 genomes]
rs4413739	0.94[EUR][1000 genomes]
rs4562286	0.92[EUR][1000 genomes]
rs62532587	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99807200-99814000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:99809400-99813000	Weak transcription	Right Ventricle	heart
3	chr8:99809600-99812400	Weak transcription	Left Ventricle	heart
4	chr8:99809600-99812600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:99809600-99813400	Weak transcription	Pancreas	Pancrea
6	chr8:99809600-99820000	Weak transcription	Ovary	ovary
7	chr8:99809600-99820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:99809800-99812200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:99809800-99812600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:99809800-99813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:99809800-99819800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:99809800-99819800	Weak transcription	A549	lung
13	chr8:99809800-99820400	Weak transcription	Osteobl	bone
14	chr8:99809800-99823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:99809800-99823000	Weak transcription	HMEC	breast
16	chr8:99810200-99813600	Weak transcription	NHEK	skin
17	chr8:99810400-99812200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:99810600-99812400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:99811000-99812400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:99811200-99812200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:99811400-99812400	Enhancers	Placenta	Placenta
22	chr8:99811400-99814600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:99811600-99812600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:99811800-99814400	Weak transcription	Colonic Mucosa	Colon
25	chr8:99811800-99820200	Weak transcription	Fetal Lung	lung
26	chr8:99812000-99812200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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