Variant report

Variant	rs12113010
Chromosome Location	chr7:80220080-80220081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80215015..80216821-chr7:80218593..80220289,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10428893	0.93[EUR][1000 genomes]
rs10429164	0.93[EUR][1000 genomes]
rs10499857	1.00[EUR][1000 genomes]
rs10499858	1.00[EUR][1000 genomes]
rs10669209	0.91[EUR][1000 genomes]
rs11768747	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11768817	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11771839	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11772036	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1194181	0.99[ASN][1000 genomes]
rs11971740	0.91[EUR][1000 genomes]
rs11971793	0.91[EUR][1000 genomes]
rs11972894	0.91[EUR][1000 genomes]
rs11974227	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11974777	0.83[EUR][1000 genomes]
rs1334511	0.91[EUR][1000 genomes]
rs1534314	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537593	0.98[ASN][1000 genomes]
rs17154130	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17154181	0.91[EUR][1000 genomes]
rs1924	0.93[EUR][1000 genomes]
rs3173798	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3173799	0.91[EUR][1000 genomes]
rs3211817	0.91[EUR][1000 genomes]
rs3211828	0.91[EUR][1000 genomes]
rs3211830	0.91[EUR][1000 genomes]
rs3211838	0.91[EUR][1000 genomes]
rs3211851	0.85[EUR][1000 genomes]
rs3211867	0.91[EUR][1000 genomes]
rs3211868	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3211869	0.91[EUR][1000 genomes]
rs3211875	0.91[EUR][1000 genomes]
rs3212162	0.86[EUR][1000 genomes]
rs3212163	0.91[EUR][1000 genomes]
rs35179913	0.91[EUR][1000 genomes]
rs4410854	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58408258	0.91[EUR][1000 genomes]
rs60133848	0.91[EUR][1000 genomes]
rs60854150	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6960369	0.91[EUR][1000 genomes]
rs9641866	0.91[EUR][1000 genomes]
rs9784998	0.91[EUR][1000 genomes]
rs9918530	0.91[EUR][1000 genomes]
rs9918586	0.89[EUR][1000 genomes];0.97[ASN][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	chr7:80217400-80221000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:80218400-80223000	Weak transcription	A549	lung
9	chr7:80218400-80223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:80219000-80223200	Weak transcription	Adipose Nuclei	Adipose
11	chr7:80219400-80220200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:80219400-80220600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:80219400-80220600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:80219400-80223200	Weak transcription	Fetal Heart	heart
15	chr7:80219400-80226400	Weak transcription	Fetal Lung	lung
16	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:80219800-80220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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