Variant report

Variant	rs7580112
Chromosome Location	chr2:11842235-11842236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084363	0.80[EUR][1000 genomes]
rs10164822	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10167619	0.81[EUR][1000 genomes]
rs10179409	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10182021	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10206665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10209047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683832	0.80[AFR][1000 genomes]
rs13386239	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13387137	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13390584	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398067	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13407243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407481	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426765	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13428600	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13431864	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432334	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4622687	0.84[EUR][1000 genomes]
rs55773509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57281558	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58196703	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59844400	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432232	0.81[EUR][1000 genomes]
rs6432233	0.81[EUR][1000 genomes]
rs66763856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6708244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716051	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716192	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725991	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736015	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748533	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67979481	0.82[ASN][1000 genomes]
rs7560325	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7570592	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574891	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7588803	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7591517	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9287737	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9287738	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11836800-11843200	Enhancers	Placenta	Placenta
2	chr2:11837800-11843200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:11837800-11845400	Weak transcription	Pancreas	Pancrea
4	chr2:11837800-11848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:11838000-11842400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:11838000-11842400	Weak transcription	Spleen	Spleen
7	chr2:11838000-11843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:11838000-11843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:11838200-11843400	Weak transcription	HMEC	breast
10	chr2:11838400-11844000	Weak transcription	Lung	lung
11	chr2:11838400-11845000	Weak transcription	Brain Anterior Caudate	brain
12	chr2:11838600-11843400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:11838600-11848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:11838800-11843400	Weak transcription	NH-A	brain
15	chr2:11839000-11843200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:11839000-11843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:11839000-11843400	Weak transcription	NHLF	lung
18	chr2:11839000-11843600	Weak transcription	NHEK	skin
19	chr2:11839200-11842400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:11839200-11843200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:11839200-11843600	Weak transcription	HSMMtube	muscle
22	chr2:11839400-11843200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:11839400-11843400	Weak transcription	HSMM	muscle
24	chr2:11839400-11843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:11840200-11844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:11840800-11842600	Enhancers	Esophagus	oesophagus
27	chr2:11841000-11843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:11841200-11842600	Weak transcription	Psoas Muscle	Psoas
29	chr2:11841200-11842800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:11841200-11842800	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:11841200-11842800	Enhancers	Dnd41	blood
32	chr2:11841400-11842600	Enhancers	Fetal Thymus	thymus
33	chr2:11841400-11842800	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:11841400-11842800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr2:11841600-11842800	Bivalent Enhancer	HepG2	liver
36	chr2:11841600-11850000	Weak transcription	Brain Substantia Nigra	brain
37	chr2:11841600-11850000	Weak transcription	Ovary	ovary
38	chr2:11841600-11850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:11841800-11842600	Enhancers	Primary B cells from cord blood	blood
40	chr2:11841800-11842600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:11841800-11845000	Enhancers	Osteobl	bone
42	chr2:11841800-11850200	Weak transcription	Brain Angular Gyrus	brain
43	chr2:11842000-11842400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:11842000-11842600	Enhancers	GM12878-XiMat	blood
45	chr2:11842000-11842800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:11842000-11842800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:11842200-11842400	Enhancers	Fetal Stomach	stomach
48	chr2:11842200-11842600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:11842200-11842600	Enhancers	K562	blood
50	chr2:11842200-11847600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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