Variant report

Variant	rs62361169
Chromosome Location	chr5:56988033-56988034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:56978767..56981076-chr5:56987149..56990064,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10057804	0.81[EUR][1000 genomes]
rs10487615	0.81[EUR][1000 genomes]
rs10940574	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12514617	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12514618	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12520466	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12522697	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12523004	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654040	0.81[EUR][1000 genomes]
rs16887298	0.81[EUR][1000 genomes]
rs17689645	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17689832	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2160057	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2192367	0.81[EUR][1000 genomes]
rs2192368	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2215419	0.81[EUR][1000 genomes]
rs2898027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58041565	0.81[EUR][1000 genomes]
rs58266257	0.81[EUR][1000 genomes]
rs62358372	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358374	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358380	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62358381	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6862527	0.81[EUR][1000 genomes]
rs6870485	0.81[EUR][1000 genomes]
rs6894116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72767430	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72767434	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72767441	0.80[EUR][1000 genomes]
rs741181	0.80[EUR][1000 genomes]
rs7714714	0.81[EUR][1000 genomes]
rs7717808	0.81[EUR][1000 genomes]
rs7734079	0.81[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56972400-56988400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:56984000-56988200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:56984000-56988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:56984200-56988400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:56984200-56988400	Weak transcription	HMEC	breast
6	chr5:56984200-56988400	Weak transcription	NHEK	skin
7	chr5:56984200-56988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:56984600-56988400	Weak transcription	Psoas Muscle	Psoas
9	chr5:56985600-56990400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:56986600-56989800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:56986800-56988600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:56986800-56991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:56987000-56992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:56987200-56988600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:56987200-56989200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:56987200-56989800	Enhancers	K562	blood
17	chr5:56987400-56988400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:56987400-56988400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:56987400-56988600	Weak transcription	Esophagus	oesophagus
20	chr5:56987400-56988600	Weak transcription	Fetal Heart	heart
21	chr5:56987400-56988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:56987400-56988800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:56987400-56994800	Weak transcription	Right Ventricle	heart
24	chr5:56987600-56988400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:56987600-56988400	Weak transcription	Right Atrium	heart
26	chr5:56987600-56988600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:56987600-56988600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:56987600-56988600	Weak transcription	Brain Substantia Nigra	brain
29	chr5:56987600-56988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:56987600-56989000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:56987600-56989000	Weak transcription	Spleen	Spleen
32	chr5:56987600-56989200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:56987600-56991400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:56987600-56991800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:56987800-56988200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:56987800-56988200	Weak transcription	Brain Angular Gyrus	brain
37	chr5:56987800-56988200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:56987800-56988200	Weak transcription	Left Ventricle	heart
39	chr5:56987800-56988200	Weak transcription	Ovary	ovary
40	chr5:56988000-56988400	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:56988000-56988400	Enhancers	A549	lung
42	chr5:56988000-56988600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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