Variant report

Variant	rs2357030
Chromosome Location	chr6:119386303-119386304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119383826..119386462-chr6:119386776..119389889,4	K562	blood:
2	chr6:119384404..119387073-chr6:119389709..119391211,2	K562	blood:
3	chr6:119384109..119386949-chr6:119396336..119398560,2	K562	blood:

Variant related genes	Relation type
ENSG00000207982	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11967399	0.85[ASN][1000 genomes]
rs11967889	0.85[ASN][1000 genomes]
rs12526935	0.97[ASN][1000 genomes]
rs1413906	0.96[ASN][1000 genomes]
rs1570493	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17513308	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1762200	0.89[ASN][1000 genomes]
rs1775619	0.82[CHB][hapmap]
rs1935817	1.00[YRI][hapmap]
rs2051056	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs2051057	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs2295709	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2357020	0.84[ASN][1000 genomes]
rs2782575	0.88[ASN][1000 genomes]
rs2797352	0.87[ASN][1000 genomes]
rs2884078	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946383	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4946388	0.95[ASN][1000 genomes]
rs4946389	0.96[ASN][1000 genomes]
rs4946390	0.96[ASN][1000 genomes]
rs57100274	0.84[ASN][1000 genomes]
rs57285368	0.85[ASN][1000 genomes]
rs6929403	0.84[JPT][hapmap]
rs6931558	0.96[ASN][1000 genomes]
rs706978	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs7756475	0.96[ASN][1000 genomes]
rs7764418	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794260	0.90[ASN][1000 genomes]
rs794261	0.89[ASN][1000 genomes]
rs794262	0.94[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs794263	0.89[ASN][1000 genomes]
rs794264	0.89[ASN][1000 genomes]
rs794266	0.89[ASN][1000 genomes]
rs794614	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs808028	0.96[ASN][1000 genomes]
rs813812	0.90[ASN][1000 genomes]
rs9374777	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9387629	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9387630	0.96[ASN][1000 genomes]
rs9398499	0.97[ASN][1000 genomes]
rs9401113	0.85[ASN][1000 genomes]
rs9401118	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9481881	0.96[ASN][1000 genomes]
rs954753	0.96[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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases
2	nsv528632	chr6:119380885-119397860	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119378200-119388400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:119382000-119387200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:119383000-119387000	Weak transcription	K562	blood
4	chr6:119385000-119386600	Weak transcription	Fetal Lung	lung
5	chr6:119385000-119397200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:119385600-119386800	Weak transcription	Fetal Intestine Large	intestine
7	chr6:119385800-119387200	Weak transcription	Fetal Intestine Small	intestine
8	chr6:119385800-119388800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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