Variant report

Variant	rs71609539
Chromosome Location	chr4:89747394-89747395
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10028284	0.94[ASN][1000 genomes]
rs10461165	0.87[EUR][1000 genomes]
rs13115763	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13149209	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35019968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4425336	0.82[ASN][1000 genomes]
rs57400569	0.83[ASN][1000 genomes]
rs73842248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73842249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7660000	0.82[EUR][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89745000-89748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:89745000-89748400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:89745000-89748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:89745000-89748800	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:89745000-89764200	Weak transcription	Ovary	ovary
6	chr4:89745000-89764800	Weak transcription	Pancreas	Pancrea
7	chr4:89745000-89770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:89745000-89775000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:89745200-89747800	Weak transcription	Thymus	Thymus
10	chr4:89745200-89748400	Weak transcription	NHEK	skin
11	chr4:89745200-89752200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:89745200-89752200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:89745200-89756600	Weak transcription	Placenta	Placenta
14	chr4:89745200-89776200	Weak transcription	Aorta	Aorta
15	chr4:89745400-89750400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:89745400-89750400	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:89745400-89754200	Weak transcription	Fetal Kidney	kidney
18	chr4:89745400-89755200	Weak transcription	NHLF	lung
19	chr4:89745400-89759000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:89745600-89747400	Weak transcription	Adipose Nuclei	Adipose
21	chr4:89745600-89747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:89745600-89748400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:89745600-89748800	Weak transcription	HepG2	liver
24	chr4:89745600-89750000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:89745600-89750400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:89745600-89750600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:89745600-89752200	Weak transcription	Fetal Intestine Small	intestine
28	chr4:89745600-89754200	Weak transcription	Fetal Lung	lung
29	chr4:89745800-89748000	Weak transcription	Hela-S3	cervix
30	chr4:89745800-89748600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:89745800-89750400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:89746200-89748200	Weak transcription	K562	blood
33	chr4:89747200-89748600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:89747200-89748800	Enhancers	Monocytes-CD14+_RO01746	blood

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