Variant report

Variant	rs12052677
Chromosome Location	chr2:230994710-230994711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:230994161..230996459-chr2:230999501..231001005,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11893862	0.87[ASN][1000 genomes]
rs12052680	0.83[ASN][1000 genomes]
rs12616682	0.87[ASN][1000 genomes]
rs4277512	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982019	0.87[ASN][1000 genomes]
rs58937409	0.96[ASN][1000 genomes]
rs59556384	0.96[ASN][1000 genomes]
rs62190338	0.96[ASN][1000 genomes]
rs6414216	0.96[ASN][1000 genomes]
rs6705913	0.84[ASN][1000 genomes]
rs6714834	0.96[ASN][1000 genomes]
rs6715401	0.96[ASN][1000 genomes]
rs6743476	0.96[ASN][1000 genomes]
rs6743904	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758938	0.96[ASN][1000 genomes]
rs6759053	0.96[ASN][1000 genomes]
rs71049625	0.82[EUR][1000 genomes]
rs7558144	0.96[ASN][1000 genomes]
rs7596380	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv875942	chr2:230959532-231008980	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875943	chr2:230960946-231027162	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2830298	chr2:230988148-230995447	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12052677	KCNJ13	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:230991600-230995800	Weak transcription	Lung	lung
2	chr2:230992000-230995800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:230992800-230999200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:230993000-230995600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:230993800-230995400	Enhancers	HepG2	liver
6	chr2:230993800-230997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:230994000-230995400	Weak transcription	Ovary	ovary
8	chr2:230994000-230995400	Weak transcription	Osteobl	bone
9	chr2:230994000-230998800	Weak transcription	HSMMtube	muscle
10	chr2:230994200-230995400	Weak transcription	Fetal Lung	lung
11	chr2:230994200-230995600	Weak transcription	Placenta	Placenta
12	chr2:230994200-230995600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:230994200-230996400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:230994200-230996800	Enhancers	NHLF	lung
15	chr2:230994200-230997400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:230994400-230995400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:230994400-230995800	Weak transcription	Right Atrium	heart
18	chr2:230994400-230996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:230994400-230996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:230994400-230998400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:230994400-230998400	Weak transcription	Spleen	Spleen
22	chr2:230994400-231000200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:230994600-230995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:230994600-230995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:230994600-230995400	Weak transcription	Small Intestine	intestine
26	chr2:230994600-230995600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:230994600-230996000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:230994600-230996400	Enhancers	NHDF-Ad	bronchial
29	chr2:230994600-231000200	Weak transcription	Rectal Mucosa Donor 31	rectum

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