Variant report

Variant	rs6729076
Chromosome Location	chr2:168295284-168295285
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10048770	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166160	1.00[ASN][1000 genomes]
rs10169923	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177399	0.91[EUR][1000 genomes]
rs10183035	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186995	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187544	0.95[EUR][1000 genomes]
rs10193628	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203387	0.95[EUR][1000 genomes]
rs10205907	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206206	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206412	0.97[EUR][1000 genomes]
rs10803824	0.83[EUR][1000 genomes]
rs12104569	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386818	1.00[ASN][1000 genomes]
rs13405810	0.97[EUR][1000 genomes]
rs13413030	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419259	0.95[EUR][1000 genomes]
rs1357606	0.84[EUR][1000 genomes]
rs1403895	0.84[EUR][1000 genomes]
rs1523888	0.84[EUR][1000 genomes]
rs2030657	0.84[EUR][1000 genomes]
rs2222504	0.84[EUR][1000 genomes]
rs2617383	0.84[EUR][1000 genomes]
rs56875650	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57979918	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432996	0.91[EUR][1000 genomes]
rs6720269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720884	0.92[EUR][1000 genomes]
rs6721252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721528	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722016	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725730	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726976	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731777	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739277	0.98[EUR][1000 genomes]
rs6747599	0.95[EUR][1000 genomes]
rs6754396	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756322	0.84[EUR][1000 genomes]
rs73023882	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558831	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567369	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585935	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594125	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs940314	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168289000-168300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168293200-168295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168293600-168295600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:168294000-168295400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:168294000-168295600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:168294000-168295800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:168294200-168295400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:168294200-168295400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:168294200-168295400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:168294400-168295400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:168294400-168295600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:168294600-168295400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:168294800-168295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:168294800-168295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:168295000-168295600	Enhancers	NH-A	brain
16	chr2:168295200-168295600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:168295200-168295600	Enhancers	NHLF	lung
18	chr2:168295200-168295800	Enhancers	Brain Cingulate Gyrus	brain

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