Variant report

Variant	rs61020637
Chromosome Location	chr8:39806945-39806946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10958572	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056378	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056477	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056699	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888361	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16888365	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16888382	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16888441	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34137953	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4090533	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4090534	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831608	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56055654	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57264762	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57283040	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59017358	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59564535	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60316762	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267348	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62512637	0.85[EUR][1000 genomes]
rs62512640	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62512641	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62512645	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513107	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62513108	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62513109	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513110	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513111	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513112	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62513117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62513119	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62513120	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62513780	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62513781	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474199	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003749	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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
3	esv3361627	chr8:39806082-39807339	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39797800-39808400	Weak transcription	Fetal Lung	lung
2	chr8:39797800-39808800	Weak transcription	Left Ventricle	heart
3	chr8:39802800-39808800	Weak transcription	Lung	lung
4	chr8:39803400-39809200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:39804400-39809200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:39805000-39807200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:39805000-39809800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:39805400-39810200	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:39805600-39807200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:39805600-39807600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:39805600-39807600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:39805600-39807800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:39805600-39808000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:39805600-39808200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:39805600-39808600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:39805600-39809200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:39805800-39807200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:39805800-39808000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:39806000-39807600	Flanking Active TSS	GM12878-XiMat	blood
20	chr8:39806000-39817000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:39806200-39807000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:39806200-39807000	Flanking Active TSS	A549	lung
23	chr8:39806200-39810000	Active TSS	Liver	Liver
24	chr8:39806400-39807000	Weak transcription	K562	blood
25	chr8:39806400-39807600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr8:39806600-39807200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:39806600-39807600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:39806800-39808000	Weak transcription	H9 Cell Line	embryonic stem cell

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