Variant report

Variant	rs129630
Chromosome Location	chr6:118481190-118481191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11153721	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11756835	0.80[ASN][1000 genomes]
rs12194270	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12203615	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12206104	0.83[JPT][hapmap]
rs12206584	0.90[JPT][hapmap]
rs12207545	0.84[JPT][hapmap]
rs12209804	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs12213071	0.84[JPT][hapmap]
rs182258	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2051615	0.80[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs205955	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205959	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205961	0.89[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205962	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205963	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs205965	0.84[JPT][hapmap]
rs205966	0.80[AFR][1000 genomes]
rs205968	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs205971	0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs205975	0.87[ASN][1000 genomes]
rs427474	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4283912	0.83[JPT][hapmap]
rs4360162	1.00[JPT][hapmap]
rs9387558	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs9387559	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs9387560	0.81[CHB][hapmap];0.95[JPT][hapmap]

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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv428153	chr6:118430517-118586974	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118468000-118485000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:118476800-118485800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:118477000-118484200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:118478400-118484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:118480600-118482000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:118480800-118481200	Enhancers	Cortex derived primary cultured neurospheres	brain

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