Variant report

Variant	rs34830471
Chromosome Location	chr7:117246657-117246658
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58237960..58239522-chr7:117246298..117249075,2	MCF-7	breast:
2	7:115861595-115870968..7:117245849-117249704	H1-hESC	embryonic stem cell:	embryo
3	7:116544149-116547624..7:117245849-117249704	H1-hESC	embryonic stem cell:	embryo
4	7:117100350-117112126..7:117245849-117249704	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10244810	0.89[EUR][1000 genomes]
rs10246649	0.96[EUR][1000 genomes]
rs1800130	0.87[EUR][1000 genomes]
rs28449716	0.96[EUR][1000 genomes]
rs28472519	0.96[EUR][1000 genomes]
rs34034651	0.96[EUR][1000 genomes]
rs34151592	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34201995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34309075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34464201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34480179	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34489981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34511745	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34567454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34587451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34652497	0.86[EUR][1000 genomes]
rs34674313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34830562	0.83[EUR][1000 genomes]
rs34849722	0.86[EUR][1000 genomes]
rs34995970	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35294574	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35305858	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35320768	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35475211	0.96[EUR][1000 genomes]
rs35504264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35537814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35553213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35783977	0.83[EUR][1000 genomes]
rs35836271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35900505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35916162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36042090	0.96[EUR][1000 genomes]
rs36046385	0.86[EUR][1000 genomes]
rs36117041	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4148717	0.96[EUR][1000 genomes]
rs6965682	0.96[EUR][1000 genomes]
rs6968747	0.96[EUR][1000 genomes]
rs7809485	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889083	chr7:117203417-117256374	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv889086	chr7:117214089-117252873	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117244000-117247200	Weak transcription	Gastric	stomach
2	chr7:117244200-117252600	Weak transcription	Dnd41	blood
3	chr7:117244200-117253200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:117245000-117252800	Weak transcription	Small Intestine	intestine
5	chr7:117245200-117294000	Weak transcription	Pancreas	Pancrea
6	chr7:117245800-117256600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:117246400-117247000	Weak transcription	Fetal Intestine Large	intestine
8	chr7:117246400-117247200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:117246400-117247400	Weak transcription	Liver	Liver
10	chr7:117246400-117252000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:117246400-117255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:117246600-117247000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:117246600-117247000	Weak transcription	A549	lung

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