Variant report

Variant	rs17015996
Chromosome Location	chr4:90604619-90604620
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10031817	0.89[ASN][1000 genomes]
rs1036084	0.85[ASN][1000 genomes]
rs11097227	0.81[ASN][1000 genomes]
rs12108375	0.82[ASN][1000 genomes]
rs12507346	0.82[ASN][1000 genomes]
rs1390281	0.82[ASN][1000 genomes]
rs1495549	0.82[ASN][1000 genomes]
rs1603250	0.82[ASN][1000 genomes]
rs17015858	0.80[JPT][hapmap]
rs28545331	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28673968	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28881549	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733449	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58310666	0.86[ASN][1000 genomes]
rs61648356	0.86[ASN][1000 genomes]
rs6532182	0.80[EUR][1000 genomes]
rs6835887	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6842271	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6855067	0.85[ASN][1000 genomes]
rs7683607	0.85[ASN][1000 genomes]
rs9985612	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv879535	chr4:90565218-90624853	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv461578	chr4:90572322-90624853	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv461579	chr4:90572322-90624853	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv594818	chr4:90572322-90624853	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv461580	chr4:90572322-90630901	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv594819	chr4:90572322-90630901	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv522681	chr4:90603044-90630901	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90602200-90605400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr4:90602200-90605600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:90602200-90605800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:90602400-90604800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:90602400-90604800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:90602400-90604800	Flanking Active TSS	Dnd41	blood
7	chr4:90602400-90605600	Active TSS	HMEC	breast
8	chr4:90602600-90604800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr4:90602600-90604800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr4:90602600-90604800	Active TSS	Placenta	Placenta
11	chr4:90602600-90605000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:90604000-90604800	Flanking Active TSS	NHEK	skin
13	chr4:90604200-90608400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:90604200-90608600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:90604400-90604800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:90604400-90604800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:90604400-90605800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:90604400-90616200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:90604600-90604800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:90604600-90605200	Flanking Active TSS	HepG2	liver
21	chr4:90604600-90606200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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