Variant report

Variant	rs529312
Chromosome Location	chr4:74767982-74767983
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74766463..74768421-chr4:74779822..74782631,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10007249	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10518117	0.93[EUR][1000 genomes]
rs11508014	0.87[EUR][1000 genomes]
rs12108606	0.90[EUR][1000 genomes]
rs13112134	0.81[ASN][1000 genomes]
rs13122604	0.81[ASN][1000 genomes]
rs13136948	0.80[ASN][1000 genomes]
rs1429637	0.93[EUR][1000 genomes]
rs149611	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1511815	0.90[EUR][1000 genomes]
rs16845091	0.93[EUR][1000 genomes]
rs16850160	0.93[EUR][1000 genomes]
rs16850178	0.93[EUR][1000 genomes]
rs1951233	0.89[EUR][1000 genomes]
rs1957069	0.86[EUR][1000 genomes]
rs2082822	0.81[ASN][1000 genomes]
rs2082823	0.81[ASN][1000 genomes]
rs2115695	0.80[ASN][1000 genomes]
rs2195543	0.93[EUR][1000 genomes]
rs2367427	0.93[EUR][1000 genomes]
rs352036	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs353028	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353029	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353031	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353032	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs353034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353040	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4082827	0.93[EUR][1000 genomes]
rs4694654	0.80[ASN][1000 genomes]
rs4694655	0.80[ASN][1000 genomes]
rs499141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57274239	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58324794	0.89[EUR][1000 genomes]
rs58463118	0.93[EUR][1000 genomes]
rs585778	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58610473	0.89[EUR][1000 genomes]
rs60775930	0.93[EUR][1000 genomes]
rs61412577	0.86[EUR][1000 genomes]
rs629315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446970	0.80[ASN][1000 genomes]
rs671253	0.93[EUR][1000 genomes]
rs6813952	0.84[EUR][1000 genomes]
rs6819566	0.81[ASN][1000 genomes]
rs6832583	0.81[ASN][1000 genomes]
rs7656335	0.86[EUR][1000 genomes]
rs7666671	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7671525	0.81[ASN][1000 genomes]
rs938094	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74757200-74770400	Enhancers	NHDF-Ad	bronchial
2	chr4:74759800-74770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:74761200-74768600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:74765800-74768400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:74766400-74768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:74766400-74768800	Enhancers	Osteobl	bone
7	chr4:74766600-74768600	Enhancers	HSMM	muscle
8	chr4:74766600-74768800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:74766800-74768200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:74766800-74768800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:74766800-74768800	Enhancers	HMEC	breast
12	chr4:74767200-74768200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:74767200-74768400	Weak transcription	Spleen	Spleen
14	chr4:74767200-74770000	Weak transcription	K562	blood
15	chr4:74767200-74770000	Weak transcription	NHLF	lung
16	chr4:74767400-74768800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:74767600-74768800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:74767600-74768800	Enhancers	NHEK	skin
19	chr4:74767600-74769200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:74767600-74769200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:74767800-74768400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:74767800-74768400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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