Variant report

Variant	rs6558591
Chromosome Location	chr8:2007230-2007231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10108246	0.84[EUR][1000 genomes]
rs13265964	0.96[ASN][1000 genomes]
rs1542063	0.92[ASN][1000 genomes]
rs1542064	0.92[ASN][1000 genomes]
rs1542065	0.92[ASN][1000 genomes]
rs34757246	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779861	0.88[ASN][1000 genomes]
rs4875923	0.89[ASN][1000 genomes]
rs4875924	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4875925	0.92[ASN][1000 genomes]
rs4875926	0.92[ASN][1000 genomes]
rs4876236	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7461903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7463722	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7833402	0.92[ASN][1000 genomes]
rs7833424	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2002400-2010400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:2003200-2007400	Genic enhancers	Fetal Muscle Leg	muscle
3	chr8:2005400-2007600	Genic enhancers	Right Ventricle	heart
4	chr8:2005800-2009800	Weak transcription	Spleen	Spleen
5	chr8:2006000-2010000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:2006400-2007600	Enhancers	Stomach Mucosa	stomach
7	chr8:2006600-2007400	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr8:2006600-2007400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr8:2006800-2007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:2006800-2007400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:2006800-2007400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:2006800-2007400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:2006800-2007400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr8:2006800-2007400	Genic enhancers	Left Ventricle	heart
15	chr8:2006800-2007400	Enhancers	Right Atrium	heart
16	chr8:2006800-2008200	Weak transcription	Fetal Heart	heart
17	chr8:2007000-2007400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:2007000-2007400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:2007000-2007400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:2007000-2007600	Genic enhancers	Psoas Muscle	Psoas
21	chr8:2007200-2007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:2007200-2007400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr8:2007200-2007600	Enhancers	Fetal Intestine Large	intestine
24	chr8:2007200-2007600	Enhancers	Fetal Intestine Small	intestine

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