Variant report

Variant	rs8061854
Chromosome Location	chr16:70670557-70670558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70663629..70665540-chr16:70670216..70672264,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11865702	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12051132	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12596022	0.87[ASN][1000 genomes]
rs12596821	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12596851	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12596861	0.85[ASN][1000 genomes]
rs12596931	0.90[ASN][1000 genomes]
rs12599245	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12708905	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12917749	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12924106	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12928124	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12932251	0.81[EUR][1000 genomes]
rs13330163	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1993448	0.80[EUR][1000 genomes]
rs2864754	0.88[EUR][1000 genomes]
rs34538878	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34878593	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3813904	0.89[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985412	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985539	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985540	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985544	0.81[ASN][1000 genomes]
rs4985548	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985555	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6499328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499329	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499330	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7193968	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72792838	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046424	0.81[CEU][hapmap]
rs8053536	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8061569	0.88[EUR][1000 genomes];0.94[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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70668600-70670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70668600-70670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:70669000-70670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70669000-70670600	Enhancers	Aorta	Aorta
6	chr16:70669200-70670600	Strong transcription	Fetal Intestine Small	intestine
7	chr16:70669400-70672800	Weak transcription	Esophagus	oesophagus
8	chr16:70669400-70673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:70669400-70673200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:70669400-70673200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:70669400-70673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:70669400-70673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:70669600-70670600	Enhancers	HUVEC	blood vessel
15	chr16:70669600-70671000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:70669600-70672600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:70669600-70672600	Weak transcription	Fetal Stomach	stomach
18	chr16:70669600-70672600	Weak transcription	NHEK	skin
19	chr16:70669600-70672800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:70669600-70672800	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:70669600-70672800	Weak transcription	HSMMtube	muscle
22	chr16:70669600-70672800	Weak transcription	NH-A	brain
23	chr16:70669600-70673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:70669600-70673000	Weak transcription	Ovary	ovary
25	chr16:70669600-70673200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:70669600-70674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:70669600-70679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:70669600-70679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
30	chr16:70670000-70672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:70670200-70673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:70670400-70672800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:70670400-70672800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr16:70670400-70672800	Weak transcription	NHDF-Ad	bronchial
35	chr16:70670400-70672800	Weak transcription	Osteobl	bone

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