Variant report

Variant	rs72660254
Chromosome Location	chr5:147470592-147470593
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10070507	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287771	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705222	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58409150	0.83[ASN][1000 genomes]
rs66850376	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67918261	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72660252	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72660253	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72660255	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325070	0.85[AMR][1000 genomes]
rs9791022	0.85[AMR][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	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:147462600-147471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:147464200-147491200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:147464400-147488800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:147466200-147471600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:147468600-147471000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:147469200-147471600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:147469200-147471600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:147469200-147481400	Weak transcription	Esophagus	oesophagus
10	chr5:147469400-147471600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:147469600-147470800	Enhancers	HMEC	breast
12	chr5:147469600-147471000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:147469600-147471000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:147469800-147470600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:147469800-147470600	Flanking Active TSS	Hela-S3	cervix
16	chr5:147469800-147472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:147469800-147472200	Flanking Active TSS	NHEK	skin
18	chr5:147470000-147470600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:147470000-147470600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:147470000-147470800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:147470000-147470800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:147470000-147473000	Weak transcription	Liver	Liver
23	chr5:147470200-147470600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:147470200-147470600	Active TSS	Stomach Mucosa	stomach
25	chr5:147470200-147470800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:147470200-147471000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:147470200-147471200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr5:147470200-147481200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:147470400-147470600	Flanking Active TSS	Fetal Lung	lung
30	chr5:147470400-147470800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:147470400-147470800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr5:147470400-147470800	Flanking Active TSS	HUVEC	blood vessel
33	chr5:147470400-147518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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