Variant report

Variant	rs10003612
Chromosome Location	chr4:53998579-53998580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53998244..54000352-chr4:54008582..54010279,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10008792	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10016471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133243	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11133244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11936236	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28497299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35275015	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4241973	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4616822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4864727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66506011	0.83[ASN][1000 genomes]
rs71621063	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7378381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr4:53978800-54008000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:53986800-54010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:53986800-54011000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:53987800-54016800	Weak transcription	NHLF	lung
5	chr4:53988200-54008000	Weak transcription	Primary B cells from cord blood	blood
6	chr4:53988600-54011000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:53989200-54010200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:53992400-54009600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:53993800-54027800	Weak transcription	Fetal Stomach	stomach
10	chr4:53994000-54011000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:53995200-54014800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:53995400-54017800	Weak transcription	Brain Substantia Nigra	brain
13	chr4:53995600-53999000	Enhancers	Fetal Lung	lung
14	chr4:53996200-53998800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:53996800-53999000	Enhancers	NHDF-Ad	bronchial
16	chr4:53997000-54017600	Weak transcription	Gastric	stomach
17	chr4:53997400-53999200	Enhancers	Adipose Nuclei	Adipose
18	chr4:53997400-54020000	Weak transcription	HSMM	muscle
19	chr4:53997600-53999000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:53997600-53999000	Enhancers	Osteobl	bone
21	chr4:53997800-53999200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:53997800-54011000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:53998000-53999000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:53998000-54008600	Weak transcription	Ovary	ovary
25	chr4:53998000-54010800	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:53998000-54011000	Weak transcription	Left Ventricle	heart
27	chr4:53998200-53998800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:53998200-53999000	Enhancers	Fetal Brain Female	brain
29	chr4:53998400-53998600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:53998400-53998600	Enhancers	Brain Hippocampus Middle	brain
31	chr4:53998400-53999000	Enhancers	Aorta	Aorta
32	chr4:53998400-54010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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