Variant report

Variant	rs2981179
Chromosome Location	chr8:39949501-39949502
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10086014	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10086939	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10092175	0.90[EUR][1000 genomes]
rs10095401	0.82[EUR][1000 genomes]
rs10958600	0.84[ASN][1000 genomes]
rs1383603	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1471559	0.85[ASN][1000 genomes]
rs1471561	0.85[ASN][1000 genomes]
rs1481063	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2929077	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2929078	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2929080	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2929081	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2929082	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2929083	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2929084	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929085	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2929086	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2929095	0.84[EUR][1000 genomes]
rs2955924	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2955925	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2955926	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2955927	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2981129	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2981136	0.84[EUR][1000 genomes]
rs2981177	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2981178	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4737039	0.89[ASN][1000 genomes]
rs7846287	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9772008	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39940000-39950000	Weak transcription	A549	lung
2	chr8:39944000-39950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:39944200-39949800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:39944600-39950200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:39948200-39950800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:39948200-39951000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:39948400-39949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:39948400-39950600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:39948600-39949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:39948600-39949600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:39948600-39949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:39948600-39949800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:39948600-39949800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:39948600-39950000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:39948600-39950600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:39948600-39951000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:39948800-39950400	Weak transcription	HepG2	liver
18	chr8:39949000-39949600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:39949200-39954800	Weak transcription	Stomach Mucosa	stomach

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