Variant report

Variant	rs2929081
Chromosome Location	chr8:39950613-39950614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10086014	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10086939	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10092175	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10095401	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1383603	0.82[EUR][1000 genomes]
rs1481063	0.82[EUR][1000 genomes]
rs2929077	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2929078	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2929080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2929083	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929084	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2929085	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2929086	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2929095	0.81[EUR][1000 genomes]
rs2955924	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2955925	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2955926	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2955927	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2981129	0.82[EUR][1000 genomes]
rs2981136	0.81[EUR][1000 genomes]
rs2981177	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2981178	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2981179	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7846287	0.84[ASN][1000 genomes]
rs9772008	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39944000-39950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:39948200-39950800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:39948200-39951000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:39948600-39951000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:39949200-39954800	Weak transcription	Stomach Mucosa	stomach
6	chr8:39949800-39951000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:39949800-39951000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:39949800-39951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:39950000-39951200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:39950200-39951000	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:39950200-39955600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:39950400-39950800	Enhancers	HepG2	liver
13	chr8:39950400-39951200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:39950400-39952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:39950400-39952200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:39950600-39951000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:39950600-39951000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:39950600-39951000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:39950600-39951000	Flanking Active TSS	A549	lung
20	chr8:39950600-39951400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:39950600-39951400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:39950600-39952600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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