Variant report

Variant	rs12283653
Chromosome Location	chr11:46231998-46231999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46141873..46143493-chr11:46230033..46232418,2	K562	blood:
2	chr11:46231907..46234628-chr11:46240321..46242392,2	K562	blood:
3	chr11:46231569..46234430-chr11:46256248..46259132,2	K562	blood:
4	chr11:46225452..46228070-chr11:46231767..46234609,2	K562	blood:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2863720	0.99[ASN][1000 genomes]
rs4237662	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620693	1.00[JPT][hapmap]
rs55702830	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936425	0.80[CHD][hapmap];0.82[TSI][hapmap]
rs7943379	0.91[JPT][hapmap]
rs7949325	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12283653	TP53I11	cis	cerebellum	SCAN
rs12283653	ARHGAP1	cis	parietal	SCAN
rs12283653	MTCH2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46231000-46232200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:46231000-46232200	Enhancers	K562	blood
3	chr11:46231200-46232000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr11:46231400-46232000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:46231400-46232000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:46231400-46232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:46231400-46232000	Enhancers	NHDF-Ad	bronchial
8	chr11:46231400-46232200	Enhancers	Spleen	Spleen
9	chr11:46231600-46232000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:46231600-46232000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:46231600-46232000	Flanking Active TSS	Osteobl	bone
12	chr11:46231600-46232200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:46231600-46232200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:46231600-46232200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr11:46231600-46232200	Enhancers	A549	lung
16	chr11:46231600-46232200	Enhancers	GM12878-XiMat	blood
17	chr11:46231600-46232200	Flanking Active TSS	Hela-S3	cervix
18	chr11:46231600-46232400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:46231600-46232600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:46231800-46232000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:46231800-46232000	Flanking Active TSS	HMEC	breast
22	chr11:46231800-46232000	Enhancers	NHEK	skin
23	chr11:46231800-46232000	Flanking Bivalent TSS/Enh	NHLF	lung
24	chr11:46231800-46232200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:46231800-46232200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:46231800-46232200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:46231800-46232200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:46231800-46232200	Enhancers	NH-A	brain
29	chr11:46231800-46232400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:46231800-46232400	Enhancers	HepG2	liver

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