Variant report

Variant	rs7703715
Chromosome Location	chr5:167227945-167227946
allele	C/G
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:30)

rs_ID	r²[population]
rs10036294	0.91[ASN][1000 genomes]
rs10454965	0.86[EUR][1000 genomes]
rs10462970	1.00[ASN][1000 genomes]
rs11134468	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11134470	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11134471	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949355	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11956673	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12186530	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12516791	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12520082	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1364370	0.86[ASN][1000 genomes]
rs17069129	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4868807	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869068	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4869072	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57533222	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57674698	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58347375	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58922769	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6555769	0.94[ASN][1000 genomes]
rs6861976	0.99[ASN][1000 genomes]
rs6898153	0.85[EUR][1000 genomes]
rs72832005	0.91[EUR][1000 genomes]
rs72832012	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72832022	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7708656	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714651	0.82[EUR][1000 genomes]
rs7730435	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7737681	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167218000-167229600	Weak transcription	HSMM	muscle
2	chr5:167219800-167229600	Weak transcription	NH-A	brain
3	chr5:167220200-167229600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:167220400-167229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:167225600-167228400	Weak transcription	NHEK	skin
6	chr5:167225600-167228600	Weak transcription	HMEC	breast
7	chr5:167225600-167228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:167225600-167239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:167225800-167228600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:167226000-167229600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:167226000-167229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:167226000-167229800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:167226200-167229600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:167226200-167229800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167226200-167229800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:167226200-167237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:167226400-167228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:167226800-167229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:167227000-167228000	Enhancers	Fetal Brain Male	brain
20	chr5:167227600-167229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:167227800-167229600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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