Variant report

Variant	rs7837305
Chromosome Location	chr8:119450986-119450987
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:7)

rs_ID	r²[population]
rs16891001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891009	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891012	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16891055	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891074	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7837320	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7838410	0.89[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119446400-119451000	Weak transcription	NHLF	lung
3	chr8:119446800-119452200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:119446800-119452200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:119447000-119452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:119448000-119452000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
8	chr8:119448400-119452200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:119449000-119453400	Enhancers	NHEK	skin
11	chr8:119449200-119452800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:119449200-119453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:119449200-119475400	Weak transcription	Gastric	stomach
14	chr8:119449400-119453200	Enhancers	HMEC	breast
15	chr8:119449400-119454000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:119449600-119451000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:119449800-119451600	Weak transcription	Fetal Heart	heart
18	chr8:119449800-119456000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:119450000-119454600	Enhancers	NHDF-Ad	bronchial
20	chr8:119450200-119453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:119450400-119453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:119450400-119454000	Enhancers	Osteobl	bone
23	chr8:119450600-119451400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:119450600-119451400	Enhancers	NH-A	brain
25	chr8:119450600-119451600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:119450600-119453400	Enhancers	HSMM	muscle
27	chr8:119450800-119451400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:119450800-119451600	Enhancers	GM12878-XiMat	blood
29	chr8:119450800-119452200	Enhancers	Hela-S3	cervix
30	chr8:119450800-119452600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:119450800-119453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:119450800-119453400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:119450800-119453400	Enhancers	HSMMtube	muscle
34	chr8:119450800-119454200	Enhancers	Muscle Satellite Cultured Cells	--

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