Variant report

Variant	rs73700066
Chromosome Location	chr8:108263638-108263639
allele	A/G
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:21)

rs_ID	r²[population]
rs56046638	0.94[AFR][1000 genomes]
rs57822881	1.00[AMR][1000 genomes]
rs58544309	1.00[AMR][1000 genomes]
rs60382703	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700019	0.88[AFR][1000 genomes]
rs73700026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700027	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700030	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700031	1.00[AMR][1000 genomes]
rs73700034	1.00[AMR][1000 genomes]
rs73700035	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700036	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700038	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700041	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700046	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700052	1.00[AMR][1000 genomes]
rs73700060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700086	0.94[AFR][1000 genomes]
rs73700096	0.83[AFR][1000 genomes]
rs73700099	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1026763	chr8:108155029-108263914	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv891266	chr8:108234516-108307058	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108227800-108276200	Weak transcription	Aorta	Aorta
2	chr8:108238200-108265200	Weak transcription	Ovary	ovary
3	chr8:108239000-108264600	Weak transcription	Osteobl	bone
4	chr8:108239600-108263800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:108242400-108263800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:108251000-108274000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:108257600-108276000	Weak transcription	NHLF	lung
8	chr8:108257800-108305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:108258600-108264400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:108259600-108264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:108259600-108264600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:108261000-108263800	Weak transcription	Fetal Kidney	kidney
13	chr8:108261400-108265600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:108261600-108264600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:108261600-108265200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:108262200-108264200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr8:108262400-108265200	Weak transcription	Placenta	Placenta
18	chr8:108262400-108266200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:108262600-108264000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:108262600-108277400	Weak transcription	HSMM	muscle
21	chr8:108262600-108282400	Weak transcription	Psoas Muscle	Psoas
22	chr8:108262800-108264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:108263400-108264600	Strong transcription	Fetal Lung	lung
24	chr8:108263400-108267600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:108263600-108267400	Strong transcription	K562	blood

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