Variant report

Variant	rs1667580
Chromosome Location	chr12:122377088-122377089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122374906..122377528-chr12:122380651..122382178,2	K562	blood:
2	chr12:122368373..122372240-chr12:122375380..122377746,3	K562	blood:
3	chr12:122370965..122375121-chr12:122376467..122380328,6	K562	blood:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10840626	0.82[EUR][1000 genomes]
rs10840627	0.85[EUR][1000 genomes]
rs11043222	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1154510	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1154513	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1154515	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11614623	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1169075	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1169077	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1169080	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169082	0.88[ASN][1000 genomes]
rs1169085	0.93[ASN][1000 genomes]
rs1169092	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1169093	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1182927	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1185260	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667583	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667584	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678967	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678969	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720041	0.81[AMR][1000 genomes]
rs1720067	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1795967	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1916333	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1947826	0.81[EUR][1000 genomes]
rs2101017	0.81[EUR][1000 genomes]
rs2230681	0.88[EUR][1000 genomes]
rs2247139	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309274	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2596137	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2596144	0.81[EUR][1000 genomes]
rs2620332	0.81[EUR][1000 genomes]
rs2620340	0.81[EUR][1000 genomes]
rs2620353	0.86[ASN][1000 genomes]
rs2688412	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2707056	0.81[EUR][1000 genomes]
rs4760099	0.88[EUR][1000 genomes]
rs493519	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs693277	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314056	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7957207	0.81[AMR][1000 genomes]
rs830116	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830122	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs830126	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs853758	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs895958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895959	0.88[EUR][1000 genomes]
rs9668191	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122357000-122380400	Weak transcription	Gastric	stomach
2	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:122363000-122384800	Weak transcription	Psoas Muscle	Psoas
4	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:122363200-122384600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:122363600-122377400	Weak transcription	Fetal Brain Female	brain
7	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
9	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
10	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
11	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
13	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
16	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:122370600-122387800	Weak transcription	NHDF-Ad	bronchial
18	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
19	chr12:122372200-122379600	Weak transcription	NH-A	brain
20	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:122372400-122377400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:122372400-122378600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:122374000-122402800	Weak transcription	HSMM	muscle
25	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:122374800-122382200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:122375200-122380400	Weak transcription	Spleen	Spleen
28	chr12:122375400-122380400	Weak transcription	Lung	lung
29	chr12:122375400-122401400	Weak transcription	Ovary	ovary
30	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122375600-122379800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:122375600-122379800	Weak transcription	Pancreas	Pancrea
33	chr12:122375600-122384000	Weak transcription	A549	lung
34	chr12:122375800-122378200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:122375800-122379800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:122375800-122379800	Weak transcription	HSMMtube	muscle
37	chr12:122375800-122380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:122375800-122380200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:122375800-122380200	Weak transcription	Fetal Stomach	stomach
40	chr12:122375800-122380200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:122375800-122380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:122375800-122381800	Weak transcription	K562	blood
43	chr12:122375800-122384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:122375800-122385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:122375800-122393600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:122375800-122415800	Weak transcription	Liver	Liver
47	chr12:122376000-122377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:122376000-122378200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:122376000-122379600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:122376000-122379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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