Variant report

Variant	rs58085392
Chromosome Location	chr7:50560832-50560833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1037351	0.80[AFR][1000 genomes]
rs1137337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575372	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11575383	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575387	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575388	0.97[ASN][1000 genomes]
rs11575422	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575431	0.97[ASN][1000 genomes]
rs11575434	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575438	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575441	0.97[ASN][1000 genomes]
rs11575450	0.97[ASN][1000 genomes]
rs11575453	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11575544	0.87[EUR][1000 genomes]
rs17133853	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17152014	0.97[ASN][1000 genomes]
rs17152020	0.94[AFR][1000 genomes]
rs2167364	0.80[AFR][1000 genomes]
rs2329368	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3779084	0.83[AFR][1000 genomes]
rs4490786	0.88[AFR][1000 genomes]
rs55782136	0.89[EUR][1000 genomes]
rs56069386	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074624	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56727653	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58024888	0.97[ASN][1000 genomes]
rs59239231	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61093871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62445903	0.91[EUR][1000 genomes]
rs62445905	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6951648	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6957607	0.85[AFR][1000 genomes]
rs72645710	0.97[ASN][1000 genomes]
rs7791875	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50545800-50565800	Weak transcription	HepG2	liver
3	chr7:50548800-50564400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50556800-50561000	Weak transcription	Ovary	ovary
5	chr7:50557400-50564200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:50559000-50561000	Enhancers	Stomach Mucosa	stomach
7	chr7:50559600-50561200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:50559600-50564200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:50559600-50564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:50559800-50561200	Enhancers	K562	blood
11	chr7:50559800-50561400	Strong transcription	Fetal Intestine Large	intestine
12	chr7:50559800-50562800	Strong transcription	Fetal Intestine Small	intestine
13	chr7:50560400-50561000	Enhancers	Gastric	stomach
14	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:50560800-50561200	Enhancers	Spleen	Spleen
16	chr7:50560800-50564200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:50560800-50564200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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