Variant report

Variant	rs4380634
Chromosome Location	chr5:92526032-92526033
allele	C/T
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:9)

rs_ID	r²[population]
rs10514373	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11747478	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652645	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657207	0.81[ASN][1000 genomes]
rs28461277	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28865023	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4869414	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61513449	0.84[ASN][1000 genomes]
rs7442897	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029175	chr5:92436038-92548473	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv830400	chr5:92515026-92738896	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830401	chr5:92518294-92703611	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92521800-92528000	Weak transcription	Fetal Kidney	kidney
2	chr5:92523400-92530000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:92524600-92526200	Enhancers	HUVEC	blood vessel
4	chr5:92524600-92527600	Enhancers	NH-A	brain
5	chr5:92524600-92528200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:92524600-92529000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:92524600-92529000	Enhancers	Osteobl	bone
8	chr5:92524600-92529800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:92524600-92530000	Enhancers	HMEC	breast
10	chr5:92524600-92530200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:92524600-92530200	Enhancers	HSMM	muscle
12	chr5:92524600-92530200	Enhancers	NHEK	skin
13	chr5:92524600-92530400	Enhancers	NHLF	lung
14	chr5:92524800-92526400	Enhancers	Hela-S3	cervix
15	chr5:92524800-92530200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:92525000-92526200	Enhancers	A549	lung
17	chr5:92525000-92529200	Enhancers	NHDF-Ad	bronchial
18	chr5:92525200-92526200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:92525200-92526200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:92525200-92526600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:92525200-92529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:92525400-92526800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:92525400-92526800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:92525600-92526800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:92525600-92530200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:92525600-92537200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:92525800-92528600	Weak transcription	Fetal Stomach	stomach
28	chr5:92525800-92536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:92526000-92526800	Weak transcription	HSMMtube	muscle
30	chr5:92526000-92527200	Weak transcription	HepG2	liver
31	chr5:92526000-92528600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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