Variant report

Variant	rs12224748
Chromosome Location	chr11:34236701-34236702
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	chr11:34230274..34232780-chr11:34235455..34237065,2	K562	blood:
2	chr11:34227935..34229540-chr11:34234431..34236788,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1022722	0.96[ASN][1000 genomes]
rs11032552	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032554	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032555	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032557	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032558	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032559	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032561	0.82[ASN][1000 genomes]
rs11032562	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11604651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271968	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12272398	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12286749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417958	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418582	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12420504	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1883959	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2473900	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2611088	0.83[ASN][1000 genomes]
rs2611089	0.94[ASN][1000 genomes]
rs2746628	0.98[ASN][1000 genomes]
rs2746629	0.98[ASN][1000 genomes]
rs55954105	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56126876	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120814	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7124297	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7949361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv515783	chr11:34230517-34237292	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
2	chr11:34226600-34244600	Weak transcription	Small Intestine	intestine
3	chr11:34227000-34244400	Weak transcription	Pancreas	Pancrea
4	chr11:34228800-34237200	Enhancers	HepG2	liver
5	chr11:34229200-34243000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:34230600-34238600	Weak transcription	Psoas Muscle	Psoas
7	chr11:34230600-34244400	Weak transcription	Right Ventricle	heart
8	chr11:34230800-34241000	Weak transcription	Placenta	Placenta
9	chr11:34232400-34241800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:34234000-34237000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:34234800-34236800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:34234800-34241600	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:34235000-34236800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:34235000-34237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:34235000-34237200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:34235000-34237200	Enhancers	Liver	Liver
17	chr11:34235200-34237200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:34235200-34237200	Enhancers	NH-A	brain
19	chr11:34235200-34237600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:34235200-34237600	Enhancers	Hela-S3	cervix
21	chr11:34235600-34236800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:34235600-34245600	Weak transcription	Spleen	Spleen
23	chr11:34236200-34236800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:34236200-34237200	Enhancers	NHEK	skin
25	chr11:34236200-34238000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:34236400-34237000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:34236400-34237000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:34236400-34237000	Enhancers	Fetal Lung	lung
29	chr11:34236400-34237000	Enhancers	HSMM	muscle
30	chr11:34236400-34237000	Enhancers	NHLF	lung
31	chr11:34236400-34237000	Enhancers	Osteobl	bone
32	chr11:34236400-34237200	Enhancers	NHDF-Ad	bronchial
33	chr11:34236400-34237800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:34236400-34237800	Enhancers	HMEC	breast
35	chr11:34236600-34236800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:34236600-34236800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:34236600-34236800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:34236600-34236800	Enhancers	Brain Hippocampus Middle	brain
39	chr11:34236600-34236800	Enhancers	Gastric	stomach
40	chr11:34236600-34236800	Enhancers	Lung	lung
41	chr11:34236600-34237000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:34236600-34237000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:34236600-34237000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:34236600-34237000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:34236600-34237000	Enhancers	Right Atrium	heart
46	chr11:34236600-34237000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:34236600-34237000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:34236600-34237000	Enhancers	GM12878-XiMat	blood
49	chr11:34236600-34237000	Enhancers	HSMMtube	muscle
50	chr11:34236600-34237200	Enhancers	Muscle Satellite Cultured Cells	--

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