Variant report

Variant	rs1154513
Chromosome Location	chr12:122391963-122391964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122391317..122393774-chr12:122396959..122400583,3	K562	blood:
2	chr12:122385316..122388171-chr12:122391826..122394372,2	MCF-7	breast:
3	chr12:122390662..122395297-chr12:122466472..122469968,4	MCF-7	breast:
4	chr12:122391300..122395865-chr12:122397802..122402180,6	K562	blood:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10840626	0.81[EUR][1000 genomes]
rs10840627	0.83[EUR][1000 genomes]
rs11043222	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1154510	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1154515	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11614623	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1169075	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1169077	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169080	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169082	0.90[ASN][1000 genomes]
rs1169085	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1169092	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1169093	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1182927	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1185260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667580	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667583	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678951	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1678967	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1678969	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1720041	0.82[AMR][1000 genomes]
rs1720067	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1795967	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1916333	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1947826	0.80[EUR][1000 genomes]
rs2101017	0.80[EUR][1000 genomes]
rs2230681	0.87[EUR][1000 genomes]
rs2247139	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309274	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2596137	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2620353	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2688412	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4760099	0.87[EUR][1000 genomes]
rs493519	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486794	0.81[AMR][1000 genomes]
rs693277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314056	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7957207	0.82[AMR][1000 genomes]
rs7961103	0.81[AMR][1000 genomes]
rs830116	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830122	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830126	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853758	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895958	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs895959	0.87[EUR][1000 genomes]
rs9668191	0.80[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1799099	chr12:122382229-122398494	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
2	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
3	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
5	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
8	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:122374000-122402800	Weak transcription	HSMM	muscle
11	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:122375400-122401400	Weak transcription	Ovary	ovary
13	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:122375800-122393600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:122375800-122415800	Weak transcription	Liver	Liver
16	chr12:122376000-122393400	Weak transcription	Brain Anterior Caudate	brain
17	chr12:122376000-122401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
19	chr12:122377400-122406200	Weak transcription	Thymus	Thymus
20	chr12:122380600-122401600	Weak transcription	Pancreas	Pancrea
21	chr12:122380800-122405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:122381000-122396400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:122381000-122400000	Weak transcription	Spleen	Spleen
24	chr12:122381000-122405800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:122382200-122393600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:122382200-122396200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:122382200-122402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:122382600-122399600	Weak transcription	K562	blood
29	chr12:122384800-122396400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:122386200-122398600	Weak transcription	Fetal Stomach	stomach
31	chr12:122388200-122395800	Weak transcription	HSMMtube	muscle
32	chr12:122388200-122396800	Weak transcription	NHDF-Ad	bronchial
33	chr12:122388200-122398600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:122388400-122395000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:122388400-122396400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:122388400-122399800	Weak transcription	NHLF	lung
37	chr12:122388400-122401800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:122389200-122396200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:122389200-122396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:122389600-122395800	Weak transcription	HMEC	breast
41	chr12:122391200-122392400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:122391400-122393200	Weak transcription	Primary B cells from cord blood	blood
43	chr12:122391400-122393200	Weak transcription	NHEK	skin
44	chr12:122391400-122393800	Weak transcription	Osteobl	bone
45	chr12:122391400-122410800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:122391600-122392000	Enhancers	HepG2	liver
47	chr12:122391600-122392200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:122391600-122402800	Weak transcription	A549	lung
49	chr12:122391600-122405600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:122391800-122392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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