Variant report

Variant	rs213979
Chromosome Location	chr7:117248234-117248235
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:117248001-117248434	A549	lung:	n/a	n/a
2	CEBPB	chr7:117247948-117248373	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:117248027-117248377	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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

No data

No data

No data

Variant related genes	Relation type
CFTR	TF binding region
ENSG00000001626	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10276533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974545	0.95[EUR][1000 genomes]
rs12534233	0.91[EUR][1000 genomes]
rs213980	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs213981	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs213988	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs213989	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs214163	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs214164	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2188150	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2213958	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2518879	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35050470	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35216437	0.91[EUR][1000 genomes]
rs35244428	0.85[AMR][1000 genomes];0.94[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117244200-117252600	Weak transcription	Dnd41	blood
2	chr7:117244200-117253200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:117245000-117252800	Weak transcription	Small Intestine	intestine
4	chr7:117245200-117294000	Weak transcription	Pancreas	Pancrea
5	chr7:117245800-117256600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:117246400-117252000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:117246400-117255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:117247600-117250400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:117247600-117250600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:117248000-117250600	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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