Variant report

Variant	rs7719956
Chromosome Location	chr5:111190497-111190498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1003272	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10515435	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11749310	0.85[ASN][1000 genomes]
rs12520499	0.81[JPT][hapmap]
rs13360997	0.90[ASN][1000 genomes]
rs17133737	1.00[EUR][1000 genomes]
rs17133745	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17133824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133845	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133847	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133862	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17133873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17133879	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs17133882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17133892	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1864136	0.82[ASN][1000 genomes]
rs34691528	0.90[ASN][1000 genomes]
rs4404725	0.93[ASN][1000 genomes]
rs4495228	0.90[ASN][1000 genomes]
rs506401	1.00[EUR][1000 genomes]
rs56243059	0.86[ASN][1000 genomes]
rs56405886	0.82[ASN][1000 genomes]
rs57227445	0.86[ASN][1000 genomes]
rs57342469	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575328	1.00[EUR][1000 genomes]
rs58429198	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59874488	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60095412	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs605747	1.00[EUR][1000 genomes]
rs61169291	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs641552	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs649429	0.82[EUR][1000 genomes]
rs657736	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6594547	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6882628	0.88[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs73787704	0.86[ASN][1000 genomes]
rs73787708	0.87[ASN][1000 genomes]
rs7701160	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7705253	0.94[ASN][1000 genomes]
rs7706739	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7708380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7708790	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7710698	0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs7723663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7728161	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7737873	0.91[AFR][1000 genomes];1.00[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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv882712	chr5:111116271-111233084	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111184400-111195200	Weak transcription	Psoas Muscle	Psoas
2	chr5:111184600-111190800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:111184800-111191200	Weak transcription	Fetal Stomach	stomach
4	chr5:111187200-111193400	Enhancers	Fetal Lung	lung
5	chr5:111188800-111192000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:111189600-111193400	Enhancers	Fetal Heart	heart
7	chr5:111189800-111192800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:111189800-111194400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:111190200-111191200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:111190200-111191200	Weak transcription	Fetal Thymus	thymus
11	chr5:111190200-111191200	Weak transcription	Right Atrium	heart
12	chr5:111190200-111191200	Weak transcription	Thymus	Thymus
13	chr5:111190200-111191400	Weak transcription	Left Ventricle	heart
14	chr5:111190200-111191800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:111190200-111193000	Enhancers	Dnd41	blood
16	chr5:111190200-111193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:111190200-111194400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:111190200-111195200	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:111190200-111195200	Weak transcription	Right Ventricle	heart
20	chr5:111190200-111204600	Weak transcription	NHLF	lung
21	chr5:111190400-111190800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:111190400-111191400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:111190400-111191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:111190400-111193000	Weak transcription	Fetal Brain Male	brain
25	chr5:111190400-111194000	Weak transcription	Osteobl	bone

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