Variant report

Variant	rs72670043
Chromosome Location	chr4:90117905-90117906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10005303	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13101992	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13127160	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13353765	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17015113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17015160	0.85[AFR][1000 genomes]
rs17015163	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28412487	0.91[ASN][1000 genomes]
rs28550634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28626911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58058005	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62304701	0.88[ASN][1000 genomes]
rs62304702	1.00[ASN][1000 genomes]
rs6532127	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66692049	0.89[ASN][1000 genomes]
rs67745050	0.89[ASN][1000 genomes]
rs72670025	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7659037	0.95[ASN][1000 genomes]
rs9994808	0.95[ASN][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv830002	chr4:90056232-90258865	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90116800-90118400	Enhancers	HUVEC	blood vessel
2	chr4:90117200-90118000	Flanking Active TSS	A549	lung
3	chr4:90117200-90118200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:90117200-90118200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:90117200-90118400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:90117200-90118400	Enhancers	HepG2	liver
7	chr4:90117400-90118200	Enhancers	Stomach Mucosa	stomach
8	chr4:90117400-90118400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:90117400-90118400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:90117400-90118400	Enhancers	Liver	Liver
11	chr4:90117400-90118800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:90117400-90119000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:90117600-90118200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:90117600-90118200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:90117600-90118600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:90117600-90118800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:90117800-90118400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr4:90117800-90118800	Weak transcription	Fetal Intestine Large	intestine
19	chr4:90117800-90119000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:90117800-90127800	Weak transcription	Pancreas	Pancrea

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