Variant report

Variant	rs1971046
Chromosome Location	chr8:39801172-39801173
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10958576	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12156204	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12542808	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12547737	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12677574	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13248917	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13250800	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13262270	0.90[EUR][1000 genomes]
rs13263777	0.82[EUR][1000 genomes]
rs13270068	0.93[EUR][1000 genomes]
rs13272828	0.82[ASN][1000 genomes]
rs13278237	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1541619	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549048	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1861904	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3927941	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4388451	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737149	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56747975	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs950911	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39785600-39805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:39794400-39801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:39796600-39806200	Weak transcription	Small Intestine	intestine
4	chr8:39797800-39802200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:39797800-39802400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:39797800-39802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:39797800-39803000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:39797800-39805800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:39797800-39808400	Weak transcription	Fetal Lung	lung
10	chr8:39797800-39808800	Weak transcription	Left Ventricle	heart
11	chr8:39798000-39801400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:39798000-39805600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:39798200-39801200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:39798200-39801400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:39798200-39801600	Enhancers	A549	lung
16	chr8:39798200-39805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:39798400-39801200	Weak transcription	K562	blood
18	chr8:39798600-39801200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:39798600-39801600	Enhancers	Hela-S3	cervix
20	chr8:39798800-39805400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:39799000-39801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:39799000-39801200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:39800600-39801400	Weak transcription	HUVEC	blood vessel
24	chr8:39800600-39801600	Enhancers	Primary B cells from cord blood	blood
25	chr8:39800600-39801600	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:39800600-39801800	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:39800600-39803000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:39800800-39801200	Weak transcription	GM12878-XiMat	blood
29	chr8:39800800-39802600	Weak transcription	Lung	lung

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