Variant report

Variant	rs7723889
Chromosome Location	chr5:81064508-81064509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13360497	1.00[ASN][1000 genomes]
rs17233376	1.00[ASN][1000 genomes]
rs72773081	1.00[ASN][1000 genomes]
rs72773085	1.00[ASN][1000 genomes]
rs7709153	1.00[ASN][1000 genomes]
rs7728918	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
2	chr5:81052200-81064800	Weak transcription	NHDF-Ad	bronchial
3	chr5:81052200-81065400	Weak transcription	Placenta	Placenta
4	chr5:81052800-81072200	Weak transcription	Psoas Muscle	Psoas
5	chr5:81054800-81064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:81060600-81069400	Weak transcription	K562	blood
7	chr5:81062800-81064600	Weak transcription	HUVEC	blood vessel
8	chr5:81063000-81064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:81063000-81064600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:81063200-81064600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:81063200-81065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:81063600-81064600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:81063600-81065000	Weak transcription	Ovary	ovary
14	chr5:81063600-81065600	Enhancers	Hela-S3	cervix
15	chr5:81063800-81064600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:81063800-81064800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:81063800-81064800	Weak transcription	NH-A	brain
18	chr5:81063800-81065000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:81063800-81065200	Enhancers	Osteobl	bone
20	chr5:81063800-81065600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:81063800-81065600	Enhancers	HMEC	breast
22	chr5:81064000-81065000	Weak transcription	NHLF	lung
23	chr5:81064200-81064600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:81064200-81064800	Enhancers	A549	lung
25	chr5:81064400-81065600	Enhancers	HSMM	muscle

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