Variant report

Variant	rs7730435
Chromosome Location	chr5:167226011-167226012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10036294	0.89[ASN][1000 genomes]
rs10045595	0.82[JPT][hapmap]
rs10065043	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs10454965	0.86[EUR][1000 genomes]
rs10462970	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11134468	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11134470	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11134471	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11949355	0.91[EUR][1000 genomes]
rs11956673	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12186530	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12516791	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[EUR][1000 genomes]
rs12520082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[EUR][1000 genomes]
rs1364370	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17069080	1.00[YRI][hapmap]
rs17069129	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2337000	0.86[CHB][hapmap]
rs4479863	0.86[CHB][hapmap]
rs4868807	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4869068	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4869072	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57533222	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57674698	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58347375	0.94[EUR][1000 genomes]
rs58922769	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6555769	0.92[ASN][1000 genomes]
rs6861976	0.96[ASN][1000 genomes]
rs6862936	0.82[CHB][hapmap]
rs6891311	0.86[CHB][hapmap]
rs6895940	0.87[CHB][hapmap]
rs6898153	0.85[EUR][1000 genomes]
rs72832005	0.91[EUR][1000 genomes]
rs72832012	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72832022	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7707689	0.82[JPT][hapmap]
rs7708656	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7714651	0.81[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs7737681	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:26 , 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	chr5:167222000-167227200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:167223800-167226200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:167224200-167226200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:167224800-167226400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167225200-167226200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:167225200-167226200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:167225400-167226200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:167225400-167226200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:167225400-167226200	Enhancers	Fetal Brain Male	brain
14	chr5:167225600-167228400	Weak transcription	NHEK	skin
15	chr5:167225600-167228600	Weak transcription	HMEC	breast
16	chr5:167225600-167228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:167225600-167239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:167225800-167226200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:167225800-167226200	Enhancers	Fetal Lung	lung
20	chr5:167225800-167226400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:167225800-167226400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:167225800-167228600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:167226000-167226200	Flanking Active TSS	Osteobl	bone
24	chr5:167226000-167229600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:167226000-167229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:167226000-167229800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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