Variant report

Variant	rs6534438
Chromosome Location	chr4:125335804-125335805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:125329863..125331625-chr4:125334293..125336446,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10440406	0.82[EUR][1000 genomes]
rs10518433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098757	0.89[EUR][1000 genomes]
rs11936734	0.89[EUR][1000 genomes]
rs11943459	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11943528	0.80[EUR][1000 genomes]
rs12498640	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12506316	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12506381	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13101405	0.80[EUR][1000 genomes]
rs13118604	0.81[EUR][1000 genomes]
rs1870113	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4833979	0.85[YRI][hapmap]
rs62320666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62320681	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6817003	0.82[EUR][1000 genomes]
rs6824755	0.89[EUR][1000 genomes]
rs6855126	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688665	0.88[EUR][1000 genomes]
rs7699211	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:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv595380	chr4:125265313-125336932	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv4500	chr4:125291643-125337271	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6534438	QRFPR	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125330600-125336200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:125331600-125341000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:125332200-125344000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:125333200-125336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:125334400-125338000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:125334600-125336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:125334800-125336200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:125334800-125336200	Enhancers	Osteobl	bone
9	chr4:125334800-125336800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:125335000-125336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:125335400-125336000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:125335400-125336000	Enhancers	HMEC	breast
13	chr4:125335400-125336000	Enhancers	NHEK	skin
14	chr4:125335400-125336200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:125335400-125336200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:125335400-125336600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:125335400-125336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:125335400-125337200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:125335600-125336200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:125335800-125336000	Flanking Active TSS	NHDF-Ad	bronchial
21	chr4:125335800-125336200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:125335800-125336200	Enhancers	HSMM	muscle
23	chr4:125335800-125336200	Enhancers	NH-A	brain
24	chr4:125335800-125336400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:125335800-125336400	Enhancers	Fetal Lung	lung
26	chr4:125335800-125336600	Enhancers	Psoas Muscle	Psoas
27	chr4:125335800-125336800	Active TSS	NHLF	lung
28	chr4:125335800-125337000	Enhancers	Rectal Smooth Muscle	rectum

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