Variant report

Variant	rs6705998
Chromosome Location	chr2:40097649-40097650
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10181405	1.00[AMR][1000 genomes]
rs10181487	1.00[AMR][1000 genomes]
rs13391265	1.00[AMR][1000 genomes]
rs13404003	1.00[AMR][1000 genomes]
rs13431212	1.00[AMR][1000 genomes]
rs6544276	1.00[AMR][1000 genomes]
rs6544295	1.00[AMR][1000 genomes]
rs6751368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7425096	1.00[AMR][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	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv430947	chr2:40080723-40141649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv581496	chr2:40082054-40123904	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40094000-40098400	Weak transcription	Dnd41	blood
2	chr2:40097000-40098800	Enhancers	Fetal Stomach	stomach
3	chr2:40097200-40098400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:40097200-40098600	Enhancers	HSMMtube	muscle
5	chr2:40097200-40098800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:40097200-40098800	Enhancers	NHLF	lung
7	chr2:40097200-40099200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:40097200-40099200	Enhancers	HMEC	breast
9	chr2:40097200-40099200	Enhancers	NHEK	skin
10	chr2:40097400-40097800	Enhancers	Fetal Heart	heart
11	chr2:40097400-40098000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:40097400-40098400	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:40097400-40099200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:40097400-40099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:40097400-40099200	Enhancers	NH-A	brain
16	chr2:40097400-40099200	Enhancers	NHDF-Ad	bronchial
17	chr2:40097400-40099200	Enhancers	Osteobl	bone
18	chr2:40097400-40099400	Enhancers	HSMM	muscle
19	chr2:40097600-40098200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:40097600-40098400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:40097600-40099000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:40097600-40099400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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