Variant report

Variant	rs3936060
Chromosome Location	chr5:124347088-124347089
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10043770	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357021	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359555	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28620272	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28697281	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272129	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5027562	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862525	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707465	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708412	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728062	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327345	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327346	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327347	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[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

Variant related diseases (count:1)

Disease	PMID	Source
Body mass index	23669352	GWAS catalog

Chromatin state (count:29 , 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	chr5:124342400-124348600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:124342800-124347800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:124344600-124347600	Weak transcription	Primary B cells from cord blood	blood
5	chr5:124345000-124347800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:124345000-124348600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:124345200-124347400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124346000-124347200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:124346000-124349200	Enhancers	Pancreas	Pancrea
10	chr5:124346200-124347200	Flanking Active TSS	GM12878-XiMat	blood
11	chr5:124346400-124348600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:124346400-124350200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:124346600-124348600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:124346800-124347400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:124346800-124347600	Flanking Active TSS	A549	lung
16	chr5:124346800-124348000	Enhancers	Dnd41	blood
17	chr5:124346800-124348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:124346800-124349000	Enhancers	HepG2	liver
19	chr5:124346800-124349200	Enhancers	Fetal Heart	heart
20	chr5:124346800-124352000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:124346800-124352200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:124347000-124347200	Enhancers	Fetal Intestine Large	intestine
23	chr5:124347000-124347200	Enhancers	Fetal Intestine Small	intestine
24	chr5:124347000-124347400	Flanking Active TSS	Liver	Liver
25	chr5:124347000-124347400	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:124347000-124347800	Enhancers	Fetal Kidney	kidney
27	chr5:124347000-124347800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr5:124347000-124349000	Enhancers	Stomach Mucosa	stomach
29	chr5:124347000-124349200	Enhancers	Primary B cells from peripheral blood	blood

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