Variant report

Variant	rs57253324
Chromosome Location	chr11:18729367-18729368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11603654	0.82[AFR][1000 genomes]
rs11605980	0.83[ASN][1000 genomes]
rs4264133	0.97[ASN][1000 genomes]
rs4561190	0.97[ASN][1000 genomes]
rs56412752	0.82[AFR][1000 genomes]
rs61411961	1.00[ASN][1000 genomes]
rs61457352	0.94[ASN][1000 genomes]
rs7110914	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18727200-18730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:18728400-18729400	Enhancers	Lung	lung
3	chr11:18728400-18742200	Weak transcription	Gastric	stomach
4	chr11:18728600-18729400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:18728600-18730000	Enhancers	Fetal Brain Male	brain
6	chr11:18728600-18742200	Weak transcription	Right Ventricle	heart
7	chr11:18728600-18742600	Weak transcription	Aorta	Aorta
8	chr11:18728800-18729400	Enhancers	Brain Angular Gyrus	brain
9	chr11:18728800-18729600	Enhancers	Brain Hippocampus Middle	brain
10	chr11:18728800-18729600	Weak transcription	Esophagus	oesophagus
11	chr11:18728800-18735200	Weak transcription	Fetal Stomach	stomach
12	chr11:18728800-18735400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:18728800-18741200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:18728800-18742000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:18728800-18742000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:18728800-18742400	Weak transcription	Fetal Kidney	kidney
17	chr11:18729000-18729400	Weak transcription	Spleen	Spleen
18	chr11:18729000-18742200	Weak transcription	Ovary	ovary
19	chr11:18729200-18742000	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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