Variant report

Variant	rs17290147
Chromosome Location	chr5:58223087-58223088
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	chr5:58218360..58219862-chr5:58222700..58224600,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10042327	0.86[AMR][1000 genomes]
rs10043483	1.00[AFR][1000 genomes]
rs10045533	0.86[AMR][1000 genomes]
rs10052111	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10053774	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054649	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057869	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058291	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059024	0.86[AMR][1000 genomes]
rs10059107	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10066704	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13328128	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328141	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13354132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360939	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888833	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28430615	1.00[AFR][1000 genomes]
rs28673893	0.86[AMR][1000 genomes]
rs34791515	0.86[AMR][1000 genomes]
rs3805555	0.82[JPT][hapmap]
rs3816996	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs57337307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58705088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59942820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58216600-58223200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:58216600-58224000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:58218600-58224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:58219000-58223600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:58221200-58223600	Enhancers	Brain Anterior Caudate	brain
6	chr5:58221400-58223200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:58221400-58223200	Enhancers	Osteobl	bone
8	chr5:58221400-58224000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:58221600-58224200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:58221600-58224400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:58221800-58223200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:58222000-58223400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr5:58222000-58223400	Weak transcription	Gastric	stomach
14	chr5:58222000-58223400	Flanking Active TSS	A549	lung
15	chr5:58222000-58223600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:58222000-58223600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:58222200-58223200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:58222200-58224200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:58222400-58223400	Enhancers	Primary T cells from cord blood	blood
20	chr5:58222400-58223400	Enhancers	Brain Hippocampus Middle	brain
21	chr5:58222400-58223600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:58222600-58223400	Enhancers	Brain Substantia Nigra	brain
23	chr5:58222600-58223400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:58222600-58225200	Weak transcription	Aorta	Aorta
25	chr5:58222600-58225200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:58222600-58230200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:58222800-58223200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:58222800-58223200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:58222800-58223200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:58222800-58223200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:58222800-58224000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr5:58223000-58223400	Enhancers	Stomach Mucosa	stomach
33	chr5:58223000-58224000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:58223000-58224000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr5:58223000-58229600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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