Variant report

Variant	rs597269
Chromosome Location	chr18:40361733-40361734
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11082297	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11872616	0.98[ASN][1000 genomes]
rs11873248	0.99[ASN][1000 genomes]
rs11876135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12457018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1626483	0.98[ASN][1000 genomes]
rs1835500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1943169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1943171	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1943177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1943178	0.97[ASN][1000 genomes]
rs1943179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2642799	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28447520	1.00[ASN][1000 genomes]
rs28780768	0.95[ASN][1000 genomes]
rs476407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[ASN][1000 genomes]
rs485404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[ASN][1000 genomes]
rs488182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs529072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[ASN][1000 genomes]
rs529621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs556211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs556394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs559216	0.97[ASN][1000 genomes]
rs587697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs589041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs594272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs604330	0.99[ASN][1000 genomes]
rs604565	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs606128	0.98[ASN][1000 genomes]
rs606919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs60827299	0.99[ASN][1000 genomes]
rs615294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs615912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs617272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[ASN][1000 genomes]
rs621000	0.99[ASN][1000 genomes]
rs622364	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs633351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[ASN][1000 genomes]
rs635930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs639529	0.94[YRI][hapmap]
rs643286	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs646328	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6507502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs656617	0.94[YRI][hapmap]
rs679462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7228468	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7235419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7238151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7238693	0.98[ASN][1000 genomes]
rs7239233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7241720	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7242948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs729581	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8084670	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8090510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8096856	0.86[CEU][hapmap]
rs8098030	0.99[ASN][1000 genomes]
rs8098429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8099760	0.99[ASN][1000 genomes]
rs9304287	0.86[CEU][hapmap]
rs9946696	0.99[ASN][1000 genomes]
rs9947110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9947132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9953581	0.98[ASN][1000 genomes]
rs9954085	0.81[CEU][hapmap]
rs9960040	0.89[YRI][hapmap]
rs9961268	0.97[ASN][1000 genomes]
rs9967226	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[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	nsv833632	chr18:40187679-40388058	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1056794	chr18:40197837-40688514	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40357000-40361800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr18:40357600-40361800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr18:40361200-40361800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:40361200-40361800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:40361400-40362200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:40361400-40365800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:40361600-40361800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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