Variant report

Variant	rs213951
Chromosome Location	chr7:117202434-117202435
allele	A/G
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..7:117201648-117203159	H1-hESC	embryonic stem cell:	embryo
2	7:117100350-117112126..7:117201648-117203159	H1-hESC	embryonic stem cell:	embryo
3	7:116604327-116608063..7:117201648-117203159	H1-hESC	embryonic stem cell:	embryo
4	7:117065049-117068137..7:117201648-117203159	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000001626	Chromatin interaction
ENSG00000228368	Chromatin interaction
ENSG00000154438	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10237738	0.82[CEU][hapmap]
rs11772396	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11978434	0.86[TSI][hapmap]
rs17139943	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs172507	0.95[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs213933	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs213938	0.95[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs213944	0.95[CEU][hapmap];0.99[EUR][1000 genomes]
rs213945	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs213947	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs213948	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs213949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs213952	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs213980	0.89[MEX][hapmap]
rs213981	0.89[MEX][hapmap]
rs213989	0.89[MEX][hapmap]
rs214163	0.89[MEX][hapmap]
rs2188554	0.85[ASW][hapmap];0.87[GIH][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap]
rs2518881	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs35403869	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6943105	0.95[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs6957018	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7789741	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	nsv889077	chr7:117129404-117238379	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv889078	chr7:117135025-117246315	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1800675	chr7:117159386-117204462	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv889080	chr7:117176248-117238379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117173000-117208000	Weak transcription	Pancreas	Pancrea
2	chr7:117181400-117213400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:117185800-117203600	Weak transcription	Fetal Intestine Large	intestine
4	chr7:117187000-117205200	Weak transcription	Stomach Mucosa	stomach
5	chr7:117193400-117205200	Weak transcription	Fetal Intestine Small	intestine
6	chr7:117195800-117206000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:117196000-117203800	Weak transcription	Dnd41	blood
8	chr7:117202400-117212600	Weak transcription	Rectal Mucosa Donor 31	rectum

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