Variant report

Variant	rs66534827
Chromosome Location	chr5:112941772-112941773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10045444	0.87[AMR][1000 genomes]
rs10071966	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1035408	0.80[EUR][1000 genomes]
rs1132528	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11957650	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12659978	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1820056	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs182987	0.85[EUR][1000 genomes]
rs2303717	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2431548	0.85[EUR][1000 genomes]
rs2434665	0.85[EUR][1000 genomes]
rs2910018	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2914200	0.91[AMR][1000 genomes]
rs348933	0.85[EUR][1000 genomes]
rs3763139	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3936062	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4235796	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4415069	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4438867	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4444963	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4639215	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4705830	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4705831	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57617774	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs59958489	0.86[AMR][1000 genomes]
rs62373764	0.84[EUR][1000 genomes]
rs6594736	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6881976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6886338	0.80[EUR][1000 genomes]
rs7702405	0.87[EUR][1000 genomes]
rs7703233	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7713378	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9326895	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9552	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9885084	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112917200-112942000	Weak transcription	K562	blood
4	chr5:112920800-112942000	Weak transcription	Ovary	ovary
5	chr5:112927200-112941800	Weak transcription	HUVEC	blood vessel
6	chr5:112929800-112942000	Weak transcription	NH-A	brain
7	chr5:112929800-112943800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:112930000-112941800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:112930000-112941800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:112930000-112942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:112930000-112942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:112930000-112943800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:112930000-112944000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:112930200-112942000	Weak transcription	Left Ventricle	heart
15	chr5:112930200-112944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:112930400-112942000	Weak transcription	A549	lung
17	chr5:112930800-112942200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:112931400-112943600	Weak transcription	NHDF-Ad	bronchial
19	chr5:112931800-112941800	Weak transcription	Placenta	Placenta
20	chr5:112931800-112943600	Weak transcription	Dnd41	blood
21	chr5:112932600-112942200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:112933600-112941800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:112933600-112942000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:112933800-112943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:112937200-112941800	Weak transcription	Right Atrium	heart
26	chr5:112939400-112942000	Weak transcription	HMEC	breast
27	chr5:112939600-112942200	Weak transcription	NHEK	skin
28	chr5:112941200-112941800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:112941400-112942000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112941400-112942200	Weak transcription	Fetal Heart	heart
31	chr5:112941400-112942400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:112941600-112941800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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