Variant report

Variant	rs12540492
Chromosome Location	chr7:80218107-80218108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10499856	1.00[AMR][1000 genomes]
rs10499860	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10499861	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10499862	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1205467	0.93[ASN][1000 genomes]
rs12531218	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12531609	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12532729	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12533372	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12534733	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12536106	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12536889	0.90[AMR][1000 genomes]
rs13223899	0.90[AMR][1000 genomes]
rs17154125	1.00[AMR][1000 genomes]
rs17154133	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17154137	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17154170	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17154186	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17154209	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17154213	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17154225	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1880410	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1969494	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1980331	0.90[AMR][1000 genomes]
rs2886753	0.90[AMR][1000 genomes]
rs3211845	0.96[ASN][1000 genomes]
rs3212159	0.96[ASN][1000 genomes]
rs3212164	0.96[ASN][1000 genomes]
rs3212165	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34076933	0.90[AMR][1000 genomes]
rs3800553	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3807090	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3823475	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57312550	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57345451	0.90[AMR][1000 genomes]
rs57886147	0.92[ASN][1000 genomes]
rs59637606	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73373063	0.86[AMR][1000 genomes]
rs7458684	0.90[AMR][1000 genomes]
rs867876	0.90[AMR][1000 genomes]
rs945095	0.90[AMR][1000 genomes]
rs945096	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1017381	chr7:80187725-80224314	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv525704	chr7:80203718-80236014	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80211000-80223200	Weak transcription	Left Ventricle	heart
2	chr7:80212600-80226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80213600-80223600	Weak transcription	Psoas Muscle	Psoas
4	chr7:80213800-80220600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:80214600-80220400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:80214800-80223200	Weak transcription	Pancreas	Pancrea
7	chr7:80215200-80218200	Weak transcription	Adipose Nuclei	Adipose
8	chr7:80216800-80218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:80216800-80219800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:80217400-80219400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:80217400-80219800	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:80217400-80221000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:80217800-80218400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:80217800-80218400	Enhancers	NHDF-Ad	bronchial
15	chr7:80217800-80218600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:80217800-80219400	Enhancers	Fetal Heart	heart
17	chr7:80218000-80218400	Enhancers	A549	lung

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