Variant report

Variant	rs11695887
Chromosome Location	chr2:172772533-172772534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172747709..172751277-chr2:172768441..172772917,4	K562	blood:
2	chr2:172769606..172772915-chr2:172967149..172970199,3	K562	blood:
3	chr2:172764440..172768356-chr2:172769175..172774540,8	K562	blood:
4	chr2:172763759..172768235-chr2:172769175..172774540,7	K562	blood:
5	chr2:172771505..172775106-chr2:172777338..172780165,6	K562	blood:
6	chr2:172770788..172773001-chr2:172780545..172783443,2	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000115844	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10166352	0.93[ASN][1000 genomes]
rs10177679	0.84[ASN][1000 genomes]
rs10188587	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10439296	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930498	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930500	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930501	0.80[ASN][1000 genomes]
rs1105264	0.80[AFR][1000 genomes]
rs11676484	0.80[ASN][1000 genomes]
rs11677573	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11692418	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883977	0.98[ASN][1000 genomes]
rs12467010	0.84[ASN][1000 genomes]
rs12468218	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12473516	0.80[ASN][1000 genomes]
rs12478215	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12479374	0.91[AFR][1000 genomes]
rs12617265	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13017988	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13018515	0.85[ASN][1000 genomes]
rs13031370	0.80[AFR][1000 genomes]
rs13399316	0.84[ASN][1000 genomes]
rs1443700	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1878583	0.82[AFR][1000 genomes]
rs1982288	0.84[ASN][1000 genomes]
rs1996425	0.80[AFR][1000 genomes]
rs2028670	0.80[ASN][1000 genomes]
rs2028671	0.80[ASN][1000 genomes]
rs2028672	0.82[ASN][1000 genomes]
rs2357207	0.84[ASN][1000 genomes]
rs2357208	0.84[ASN][1000 genomes]
rs28372952	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3791343	0.80[ASN][1000 genomes]
rs4072279	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4324292	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4668419	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59853867	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60706248	0.84[ASN][1000 genomes]
rs6433317	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6433318	0.84[ASN][1000 genomes]
rs6707142	0.80[ASN][1000 genomes]
rs6708365	0.81[ASN][1000 genomes]
rs6711813	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6714214	0.80[ASN][1000 genomes]
rs6726991	0.81[ASN][1000 genomes]
rs6736159	0.81[ASN][1000 genomes]
rs6740705	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6742905	0.84[ASN][1000 genomes]
rs6757680	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6758494	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7340516	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7371503	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7579509	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7580132	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7583860	0.83[AFR][1000 genomes]
rs7588025	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7594478	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7597525	0.84[ASN][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11695887	AC068039.4	cis	Esophagus Mucosa	GTEx

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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