Variant report

Variant	rs7517793
Chromosome Location	chr1:76507997-76507998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1013629	0.90[AFR][1000 genomes]
rs10493578	0.88[EUR][1000 genomes]
rs10493580	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162070	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162073	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11804459	0.87[ASN][1000 genomes]
rs11805321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023970	0.88[EUR][1000 genomes]
rs12032833	0.90[ASN][1000 genomes]
rs12032853	0.90[ASN][1000 genomes]
rs12033420	0.90[ASN][1000 genomes]
rs12035171	0.87[EUR][1000 genomes]
rs12038667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039427	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040836	0.90[ASN][1000 genomes]
rs12568806	0.83[EUR][1000 genomes]
rs1370714	0.90[ASN][1000 genomes]
rs1417407	0.83[EUR][1000 genomes]
rs17599859	0.90[ASN][1000 genomes]
rs1934816	0.89[ASN][1000 genomes]
rs2289240	0.88[EUR][1000 genomes]
rs2289241	0.88[EUR][1000 genomes]
rs291075	0.84[EUR][1000 genomes]
rs4083965	0.90[ASN][1000 genomes]
rs4146895	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4146896	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4949690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58483436	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61771303	0.90[ASN][1000 genomes]
rs6679705	0.90[ASN][1000 genomes]
rs6685661	0.90[ASN][1000 genomes]
rs6686341	0.90[ASN][1000 genomes]
rs6688109	0.90[ASN][1000 genomes]
rs6688802	0.90[ASN][1000 genomes]
rs6692421	0.90[ASN][1000 genomes]
rs6696470	0.90[ASN][1000 genomes]
rs6703050	0.90[ASN][1000 genomes]
rs6703053	0.90[ASN][1000 genomes]
rs6703146	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704184	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs699830	0.86[EUR][1000 genomes]
rs7513692	0.90[ASN][1000 genomes]
rs7517974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529565	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536325	0.90[ASN][1000 genomes]
rs7550814	0.90[ASN][1000 genomes]
rs7556623	0.83[EUR][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76503600-76509600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:76504000-76509200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:76506200-76508000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:76506400-76514000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:76506600-76508000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:76506600-76514000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:76507400-76509600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:76507600-76513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:76507800-76513800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:76507800-76514000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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