Variant report

Variant	rs4272129
Chromosome Location	chr5:124337948-124337949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10043770	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155594	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357021	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359555	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28620272	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3936060	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5027562	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862525	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888931	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707465	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708412	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728062	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327345	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124323400-124348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124326600-124342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124333000-124341000	Weak transcription	Brain Anterior Caudate	brain
4	chr5:124333200-124339200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:124333400-124338600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:124333400-124339600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:124333600-124338000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:124333800-124338400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:124333800-124341400	Weak transcription	Fetal Kidney	kidney
10	chr5:124334400-124338600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:124334400-124338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:124334600-124338400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:124336400-124341800	Enhancers	Dnd41	blood
14	chr5:124336800-124343000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:124337000-124343000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:124337000-124343000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:124337200-124338000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:124337200-124338400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:124337200-124341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:124337200-124342000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:124337400-124341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:124337600-124342600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:124337800-124342600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:124337800-124342800	Enhancers	HUES6 Cell Line	embryonic stem cell

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