Variant report

Variant	rs41481550
Chromosome Location	chr8:112201259-112201260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1427188	0.81[EUR][1000 genomes]
rs4581081	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4593575	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6983730	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72680814	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72680819	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72680821	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812689	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837999	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs890563	1.00[CEU][hapmap];1.00[YRI][hapmap]

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	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv891302	chr8:111987798-112238390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv891306	chr8:112021630-112238390	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891310	chr8:112079211-112238390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv891311	chr8:112088322-112604086	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv891312	chr8:112111911-112238390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1034184	chr8:112171949-112274721	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112200600-112201400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:112200600-112201600	Enhancers	NH-A	brain
3	chr8:112200600-112201800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:112200600-112202000	Enhancers	HMEC	breast
5	chr8:112200600-112202000	Enhancers	HSMMtube	muscle
6	chr8:112200600-112202200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:112200800-112201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:112201000-112201400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:112201200-112201400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:112201200-112201600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:112201200-112202000	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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