Variant report

Variant	rs11575422
Chromosome Location	chr7:50562607-50562608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1037351	0.84[AFR][1000 genomes]
rs1137337	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11575372	0.90[ASN][1000 genomes]
rs11575383	0.93[ASN][1000 genomes]
rs11575387	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11575388	0.90[ASN][1000 genomes]
rs11575431	0.90[ASN][1000 genomes]
rs11575434	0.93[ASN][1000 genomes]
rs11575438	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11575441	0.90[ASN][1000 genomes]
rs11575450	0.90[ASN][1000 genomes]
rs11575453	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17133853	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152014	0.90[ASN][1000 genomes]
rs17152020	0.82[AFR][1000 genomes]
rs2167364	0.84[AFR][1000 genomes]
rs2329368	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3779084	0.85[AFR][1000 genomes]
rs56069386	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56074624	0.82[EUR][1000 genomes]
rs56727653	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58024888	0.90[ASN][1000 genomes]
rs58085392	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59239231	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61093871	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62445903	0.80[EUR][1000 genomes]
rs62445905	0.82[EUR][1000 genomes]
rs6951648	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6957607	0.88[AFR][1000 genomes]
rs72645710	0.90[ASN][1000 genomes]
rs7791875	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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:22 , 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	chr7:50557400-50564200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:50559600-50564200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:50559600-50564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:50559800-50562800	Strong transcription	Fetal Intestine Small	intestine
8	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:50560800-50564200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:50560800-50564200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:50561000-50563800	Weak transcription	Stomach Mucosa	stomach
13	chr7:50561000-50564200	Weak transcription	Gastric	stomach
14	chr7:50561200-50563600	Weak transcription	K562	blood
15	chr7:50561200-50564200	Weak transcription	Spleen	Spleen
16	chr7:50561400-50562800	Weak transcription	Fetal Intestine Large	intestine
17	chr7:50561400-50564000	Weak transcription	Ovary	ovary
18	chr7:50561800-50562800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:50562000-50564400	Weak transcription	Small Intestine	intestine
20	chr7:50562600-50563200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:50562600-50563600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:50562600-50564200	Enhancers	HUVEC	blood vessel

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