Variant report

Variant	rs4285204
Chromosome Location	chr5:92528272-92528273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10428523	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11738974	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11742251	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11743310	1.00[ASN][1000 genomes]
rs12054781	0.89[ASN][1000 genomes]
rs34700540	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242242	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242244	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4264926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266388	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4293897	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4302568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321736	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4370258	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4449514	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469186	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551050	1.00[ASN][1000 genomes]
rs4551051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4554194	1.00[ASN][1000 genomes]
rs4557386	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4632783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869191	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869415	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869417	0.94[ASN][1000 genomes]
rs5022102	0.81[EUR][1000 genomes]
rs55993462	0.92[ASN][1000 genomes]
rs57542119	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59262698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6557063	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6557066	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66467168	0.94[ASN][1000 genomes]
rs66496757	0.83[EUR][1000 genomes]
rs66624622	0.94[ASN][1000 genomes]
rs67069214	0.94[ASN][1000 genomes]
rs67217436	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67735054	0.94[ASN][1000 genomes]
rs67779882	0.83[EUR][1000 genomes]
rs67862943	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863269	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6873367	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6873704	0.83[EUR][1000 genomes]
rs6883741	0.84[EUR][1000 genomes]
rs6897863	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7448746	0.81[AMR][1000 genomes]
rs7700810	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7714485	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7715730	0.97[ASN][1000 genomes]
rs7720062	0.81[AMR][1000 genomes]
rs7722144	0.97[ASN][1000 genomes]
rs7722718	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9764490	0.91[ASN][1000 genomes]
rs9790989	0.89[ASN][1000 genomes]
rs9791001	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92523400-92530000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:92524600-92529000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:92524600-92529000	Enhancers	Osteobl	bone
4	chr5:92524600-92529800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:92524600-92530000	Enhancers	HMEC	breast
6	chr5:92524600-92530200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:92524600-92530200	Enhancers	HSMM	muscle
8	chr5:92524600-92530200	Enhancers	NHEK	skin
9	chr5:92524600-92530400	Enhancers	NHLF	lung
10	chr5:92524800-92530200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:92525000-92529200	Enhancers	NHDF-Ad	bronchial
12	chr5:92525200-92529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:92525600-92530200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:92525600-92537200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92525800-92528600	Weak transcription	Fetal Stomach	stomach
16	chr5:92525800-92536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:92526000-92528600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:92526800-92529800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:92526800-92529800	Enhancers	HSMMtube	muscle
20	chr5:92526800-92530000	Enhancers	HUVEC	blood vessel
21	chr5:92526800-92530400	Enhancers	Hela-S3	cervix
22	chr5:92527000-92529600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:92527200-92528800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:92527200-92530000	Enhancers	HepG2	liver
25	chr5:92527200-92530400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:92527400-92528800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:92527400-92529800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:92527600-92528400	Flanking Active TSS	A549	lung
29	chr5:92527600-92529000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:92527800-92530400	Enhancers	Fetal Lung	lung
31	chr5:92528000-92528400	Enhancers	NH-A	brain
32	chr5:92528000-92528800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:92528000-92528800	Weak transcription	Ovary	ovary
34	chr5:92528000-92530200	Enhancers	Fetal Kidney	kidney
35	chr5:92528200-92528400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:92528200-92528600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:92528200-92529000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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