Variant report

Variant	rs1423430
Chromosome Location	chr5:37830374-37830375
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37828282..37831109-chr5:37832662..37834431,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs36010631	0.87[AMR][1000 genomes]
rs58303520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37815800-37830600	Weak transcription	Ovary	ovary
2	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:37816800-37830600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:37816800-37831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:37817000-37831800	Weak transcription	NH-A	brain
6	chr5:37817400-37831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:37818200-37834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:37820200-37832000	Strong transcription	NHDF-Ad	bronchial
9	chr5:37822600-37834400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:37822800-37830600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:37824400-37832400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:37824800-37831600	Weak transcription	NHEK	skin
13	chr5:37825200-37831800	Weak transcription	NHLF	lung
14	chr5:37825800-37832000	Weak transcription	Fetal Kidney	kidney
15	chr5:37827000-37830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:37827000-37831800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:37827000-37832000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:37827200-37831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:37828400-37830400	Weak transcription	Fetal Stomach	stomach
20	chr5:37829000-37833800	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:37829400-37831600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:37829600-37831200	Enhancers	HSMMtube	muscle
23	chr5:37829600-37831600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:37830000-37830600	Strong transcription	Osteobl	bone
25	chr5:37830200-37830800	Genic enhancers	Colon Smooth Muscle	Colon
26	chr5:37830200-37831000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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