Variant report

Variant	rs57337307
Chromosome Location	chr5:58216006-58216007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58206400-58216400	Weak transcription	Psoas Muscle	Psoas
2	chr5:58210000-58218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:58210600-58216400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:58211200-58216600	Weak transcription	Right Atrium	heart
5	chr5:58212000-58216600	Weak transcription	Left Ventricle	heart
6	chr5:58212000-58218400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:58213200-58216600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:58213200-58221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:58213400-58218800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:58214000-58216600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr5:58214200-58217200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:58214600-58216400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr5:58214600-58217200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:58214600-58217600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:58214800-58216800	Weak transcription	A549	lung
16	chr5:58215200-58216200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:58215200-58216600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:58215200-58217000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:58215400-58216200	Enhancers	Fetal Heart	heart
20	chr5:58215400-58216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:58215400-58217000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:58215400-58217200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr5:58215400-58218200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:58215400-58218400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:58215600-58218200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:58215800-58216800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:58215800-58217000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr5:58215800-58217400	Enhancers	Fetal Muscle Leg	muscle
29	chr5:58216000-58216600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:58216000-58216800	Enhancers	Brain Germinal Matrix	brain
31	chr5:58216000-58218400	Enhancers	Cortex derived primary cultured neurospheres	brain

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