Variant report

Variant	rs10518422
Chromosome Location	chr4:124622657-124622658
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124591127..124594016-chr4:124622193..124624753,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10006717	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10011376	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11723044	0.81[ASN][1000 genomes]
rs11728834	0.83[EUR][1000 genomes]
rs11730924	0.81[CHB][hapmap]
rs11736969	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499994	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12508844	0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12509035	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12509315	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13115374	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13129658	0.86[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs35117841	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7660796	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307530	0.85[EUR][1000 genomes]
rs9996214	0.83[EUR][1000 genomes]
rs9999581	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv980514	chr4:124620149-124622952	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10518422	NUDT6	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124618400-124632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124620400-124623200	Enhancers	Fetal Lung	lung
3	chr4:124620800-124622800	Enhancers	HSMM	muscle
4	chr4:124620800-124623200	Enhancers	HUVEC	blood vessel
5	chr4:124621000-124623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:124621400-124623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:124621600-124623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:124621600-124627800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:124621600-124631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:124622000-124622800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:124622000-124623000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:124622000-124623000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:124622000-124623200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:124622000-124630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:124622000-124636200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:124622000-124637200	Weak transcription	Psoas Muscle	Psoas
17	chr4:124622200-124622800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:124622200-124622800	Weak transcription	Fetal Stomach	stomach
19	chr4:124622200-124622800	Weak transcription	NHLF	lung
20	chr4:124622200-124623000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:124622200-124623000	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:124622200-124623200	Enhancers	HSMMtube	muscle
23	chr4:124622200-124623200	Enhancers	Osteobl	bone
24	chr4:124622200-124623400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:124622200-124624200	Weak transcription	Aorta	Aorta
26	chr4:124622400-124622800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:124622400-124623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:124622400-124623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:124622400-124623400	Enhancers	NHDF-Ad	bronchial
30	chr4:124622600-124623000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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