Variant report

Variant	rs58705088
Chromosome Location	chr5:58219551-58219552
allele	C/G
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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]
rs17290147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
rs3816996	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]
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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58213200-58221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:58216600-58220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:58216600-58220600	Enhancers	Right Atrium	heart
4	chr5:58216600-58222800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:58216600-58223200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:58216600-58224000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:58216800-58221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:58216800-58221400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:58217000-58221400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:58217400-58221400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:58217400-58221600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:58217400-58221800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:58218200-58219800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:58218200-58219800	Enhancers	Fetal Muscle Leg	muscle
15	chr5:58218200-58220400	Enhancers	Osteobl	bone
16	chr5:58218200-58222000	Enhancers	A549	lung
17	chr5:58218400-58219600	Enhancers	Colon Smooth Muscle	Colon
18	chr5:58218400-58219600	Enhancers	Stomach Smooth Muscle	stomach
19	chr5:58218400-58219800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:58218600-58219600	Weak transcription	Aorta	Aorta
21	chr5:58218600-58219600	Enhancers	Fetal Kidney	kidney
22	chr5:58218600-58221200	Weak transcription	Brain Anterior Caudate	brain
23	chr5:58218600-58221200	Weak transcription	Gastric	stomach
24	chr5:58218600-58224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:58218800-58219800	Enhancers	Psoas Muscle	Psoas
26	chr5:58218800-58221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:58218800-58221800	Weak transcription	Stomach Mucosa	stomach
28	chr5:58219000-58220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:58219000-58221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:58219000-58222000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:58219000-58222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:58219000-58223600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:58219200-58220600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:58219200-58221200	Weak transcription	Pancreas	Pancrea
35	chr5:58219200-58221400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:58219200-58222200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr5:58219200-58222400	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:58219200-58223000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:58219400-58221400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:58219400-58221800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:58219400-58221800	Weak transcription	NH-A	brain
42	chr5:58219400-58222600	Weak transcription	Brain Substantia Nigra	brain

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