Variant report

Variant	rs254538
Chromosome Location	chr7:116973288-116973289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116964911-116973650	H1-hESC	embryonic stem cell:	embryo
2	7:115847372-115857098..7:116964911-116973650	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10230259	0.83[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237017	1.00[ASN][1000 genomes]
rs10242827	0.81[ASW][hapmap];0.84[CEU][hapmap];0.83[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025342	1.00[ASN][1000 genomes]
rs10255092	0.88[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258791	0.84[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264450	0.92[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264892	1.00[ASN][1000 genomes]
rs10278953	0.88[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487364	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12536356	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139821	1.00[ASN][1000 genomes]
rs17450482	1.00[ASN][1000 genomes]
rs17544734	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17545644	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17547485	1.00[ASN][1000 genomes]
rs177071	1.00[ASN][1000 genomes]
rs1800503	1.00[ASN][1000 genomes]
rs213972	1.00[ASN][1000 genomes]
rs2518872	1.00[ASN][1000 genomes]
rs254537	0.92[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34268361	1.00[ASN][1000 genomes]
rs34420782	1.00[ASN][1000 genomes]
rs34654194	1.00[ASN][1000 genomes]
rs35003065	1.00[ASN][1000 genomes]
rs35130797	1.00[ASN][1000 genomes]
rs35342599	1.00[ASN][1000 genomes]
rs35415299	1.00[ASN][1000 genomes]
rs35715578	1.00[ASN][1000 genomes]
rs35777371	1.00[ASN][1000 genomes]
rs35820454	1.00[ASN][1000 genomes]
rs35987553	1.00[ASN][1000 genomes]
rs36082161	1.00[ASN][1000 genomes]
rs39308	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39309	0.83[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39310	0.88[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39311	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs39314	0.84[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39320	0.88[CEU][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39321	0.88[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39322	0.84[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39325	0.92[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285411	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466610	0.92[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943509	1.00[ASN][1000 genomes]
rs6961545	1.00[ASN][1000 genomes]
rs6963669	0.81[ASW][hapmap];0.92[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965682	1.00[ASN][1000 genomes]
rs73480763	1.00[ASN][1000 genomes]
rs7779160	0.85[EUR][1000 genomes]
rs7795896	0.81[ASW][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7802924	1.00[ASN][1000 genomes]
rs7809485	1.00[ASN][1000 genomes]
rs7812185	1.00[ASN][1000 genomes]
rs916727	0.92[CEU][hapmap];1.00[CHD][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916728	0.91[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886209	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs254538	CFTR	cis	brain	BrainEAC

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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