Variant report

Variant	rs4869275
Chromosome Location	chr5:95563213-95563214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95562010..95564635-chr5:95566152..95567653,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10037912	0.86[AFR][1000 genomes]
rs10054303	0.83[ASN][1000 genomes]
rs10062171	0.96[ASN][1000 genomes]
rs10064683	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213951	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10476546	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs11135450	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs12518407	0.96[ASN][1000 genomes]
rs28788264	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4077816	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4264961	0.82[EUR][1000 genomes]
rs4367317	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379224	0.93[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4464721	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4635954	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4635955	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55745974	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311820	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366027	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62366031	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6556912	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6881060	0.82[EUR][1000 genomes]
rs6885381	0.82[EUR][1000 genomes]
rs6888535	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6895341	0.82[EUR][1000 genomes]
rs6899076	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787618	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7447610	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7708068	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95561800-95563800	Enhancers	Ovary	ovary
2	chr5:95561800-95564000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95561800-95564000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95561800-95564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:95561800-95564200	Enhancers	NHLF	lung
6	chr5:95561800-95565200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:95562000-95563800	Enhancers	Aorta	Aorta
8	chr5:95562400-95563400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:95562400-95563400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:95562400-95563600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95562400-95563600	Enhancers	Fetal Muscle Leg	muscle
12	chr5:95562400-95563800	Enhancers	NHEK	skin
13	chr5:95562400-95564200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:95562600-95563600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:95562600-95563600	Enhancers	A549	lung
16	chr5:95562600-95564000	Enhancers	Dnd41	blood
17	chr5:95562600-95566000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:95562600-95566200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:95562800-95563400	Enhancers	HSMM	muscle
20	chr5:95562800-95563400	Enhancers	HSMMtube	muscle
21	chr5:95562800-95563800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:95562800-95564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:95562800-95564800	Enhancers	NH-A	brain
24	chr5:95562800-95565200	Enhancers	NHDF-Ad	bronchial
25	chr5:95562800-95565400	Enhancers	HMEC	breast
26	chr5:95562800-95565600	Weak transcription	HepG2	liver
27	chr5:95563000-95563400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:95563000-95563400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:95563000-95563400	Enhancers	Brain Substantia Nigra	brain
30	chr5:95563000-95564000	Enhancers	Fetal Lung	lung
31	chr5:95563000-95564800	Weak transcription	Brain Angular Gyrus	brain
32	chr5:95563000-95565200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:95563000-95565200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:95563000-95565200	Enhancers	Osteobl	bone
35	chr5:95563200-95563600	Enhancers	Fetal Kidney	kidney
36	chr5:95563200-95563600	Enhancers	Fetal Stomach	stomach
37	chr5:95563200-95563800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:95563200-95564400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:95563200-95564800	Weak transcription	Brain Anterior Caudate	brain

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