Variant report

Variant	rs6996485
Chromosome Location	chr8:119202303-119202304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11562666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562691	1.00[AMR][1000 genomes]
rs11562692	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562712	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562745	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562803	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17484548	0.83[AFR][1000 genomes]
rs17484670	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17484677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17484698	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17484810	1.00[AMR][1000 genomes]
rs17507089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17507096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17507138	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17507180	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17507187	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17507278	1.00[AMR][1000 genomes]
rs17507285	1.00[AMR][1000 genomes]
rs4259442	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4265214	1.00[AMR][1000 genomes]
rs6992495	0.83[YRI][hapmap]
rs7012988	0.83[YRI][hapmap]
rs7014868	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014943	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119194000-119202600	Weak transcription	Aorta	Aorta
2	chr8:119198800-119202400	Weak transcription	NHDF-Ad	bronchial
3	chr8:119199000-119203800	Enhancers	Primary T cells from cord blood	blood
4	chr8:119199200-119206800	Enhancers	Thymus	Thymus
5	chr8:119199200-119207600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:119199400-119202800	Weak transcription	NH-A	brain
7	chr8:119199600-119206600	Enhancers	Fetal Thymus	thymus
8	chr8:119199600-119208000	Weak transcription	HSMMtube	muscle
9	chr8:119200000-119207200	Weak transcription	HSMM	muscle
10	chr8:119200000-119207600	Weak transcription	Pancreas	Pancrea
11	chr8:119200400-119202400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:119200800-119218800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:119201200-119202600	Enhancers	Dnd41	blood
14	chr8:119201200-119203800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:119201400-119209400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:119201600-119203200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:119201800-119202600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:119201800-119203000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:119201800-119203000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:119201800-119203000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:119201800-119203600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:119201800-119203800	Enhancers	Osteobl	bone
23	chr8:119201800-119204000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:119202200-119202600	Enhancers	HMEC	breast
25	chr8:119202200-119202800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:119202200-119203200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:119202200-119203800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:119202200-119203800	Enhancers	Liver	Liver

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