Variant report

Variant	rs993754
Chromosome Location	chr11:4934101-4934102
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4930618-4934702..11:4934702-4937867	H1-hESC	embryonic stem cell:	embryo
2	11:4930618-4934702..11:5714465-5718134	H1-hESC	embryonic stem cell:	embryo
3	11:4789513-4794705..11:4930618-4934702	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000176893	Chromatin interaction
ENSG00000188069	Chromatin interaction
ENSG00000132274	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10219407	1.00[CHB][hapmap]
rs10500632	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs11033729	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11033730	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11034704	1.00[CHB][hapmap]
rs12273089	1.00[CHB][hapmap]
rs12288920	1.00[CHB][hapmap]
rs12290571	1.00[ASN][1000 genomes]
rs12417099	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419598	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421276	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12421906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807423	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16907494	1.00[CHB][hapmap]
rs16907537	1.00[CHB][hapmap]
rs16907539	1.00[CHB][hapmap]
rs16907541	1.00[CHB][hapmap]
rs16907558	1.00[CHB][hapmap]
rs17252092	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17252916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946637	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35808145	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108225	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71480739	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651650	1.00[CHB][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	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv896917	chr11:4917089-4935470	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs993754	HBE1	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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