Variant report

Variant	rs4412336
Chromosome Location	chr8:91712401-91712402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10453062	0.86[ASW][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11995465	0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2018362	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28609363	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55933348	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55950958	0.98[AFR][1000 genomes]
rs59008785	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60872945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694549	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91705800-91712800	Weak transcription	Osteobl	bone
3	chr8:91705800-91713000	Weak transcription	NH-A	brain
4	chr8:91707200-91713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:91707400-91712600	Weak transcription	NHLF	lung
6	chr8:91707400-91713200	Weak transcription	Ovary	ovary
7	chr8:91707600-91712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:91707800-91713000	Weak transcription	HSMM	muscle
9	chr8:91710000-91712600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:91711000-91714800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:91711200-91713000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:91711200-91713800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:91711200-91714600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:91711200-91715000	Enhancers	Adipose Nuclei	Adipose
15	chr8:91711400-91713800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:91711400-91714000	Enhancers	Colon Smooth Muscle	Colon
17	chr8:91711400-91715000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:91711400-91715000	Enhancers	HMEC	breast
19	chr8:91711400-91715000	Enhancers	NHEK	skin
20	chr8:91711600-91714200	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:91711800-91714800	Enhancers	NHDF-Ad	bronchial
22	chr8:91712000-91712800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:91712000-91712800	Weak transcription	Fetal Intestine Small	intestine
24	chr8:91712200-91712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:91712200-91712800	Enhancers	Fetal Kidney	kidney
26	chr8:91712200-91713200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:91712200-91714600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:91712200-91715000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:91712400-91714200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:91712400-91714600	Enhancers	Muscle Satellite Cultured Cells	--

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