Variant report

Variant	rs7722416
Chromosome Location	chr5:147285713-147285714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10477355	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1123380	0.81[YRI][hapmap]
rs11958481	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1432973	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432974	0.82[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1549204	0.92[YRI][hapmap]
rs17107413	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17107421	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17703848	0.85[CEU][hapmap]
rs1835968	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1835969	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2304067	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6580506	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580507	0.85[EUR][1000 genomes]
rs6859879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862197	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73263247	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7706789	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7708635	0.88[YRI][hapmap]
rs7709303	0.88[YRI][hapmap]
rs7722926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv520730	chr5:147285713-147286054	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
2	chr5:147280400-147286000	Weak transcription	Stomach Mucosa	stomach
3	chr5:147281400-147285800	Weak transcription	HSMMtube	muscle
4	chr5:147281800-147285800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:147283400-147286800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:147283600-147286800	Enhancers	HMEC	breast
7	chr5:147283800-147285800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:147284000-147286200	Active TSS	Aorta	Aorta
9	chr5:147284000-147286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:147284200-147286000	Active TSS	Placenta Amnion	Placenta Amnion
11	chr5:147284200-147291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:147284400-147285800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:147285000-147286000	Active TSS	Right Atrium	heart
14	chr5:147285000-147286200	Active TSS	Right Ventricle	heart
15	chr5:147285000-147286800	Enhancers	Fetal Heart	heart
16	chr5:147285200-147285800	Weak transcription	Osteobl	bone
17	chr5:147285400-147285800	Active TSS	NH-A	brain
18	chr5:147285400-147286800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:147285600-147286800	Enhancers	Hela-S3	cervix

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