Variant report

Variant	rs12442069
Chromosome Location	chr15:57097860-57097861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57089501..57091626-chr15:57095259..57098148,3	K562	blood:
2	chr15:57093337..57095465-chr15:57097017..57099531,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10518872	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11071285	0.89[EUR][1000 genomes]
rs12437635	0.90[AMR][1000 genomes]
rs12437714	0.93[AMR][1000 genomes]
rs12437735	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437753	0.82[AMR][1000 genomes]
rs12438377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438572	0.86[AMR][1000 genomes]
rs12438728	0.89[EUR][1000 genomes]
rs12439116	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439563	0.89[EUR][1000 genomes]
rs12439697	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440006	0.89[EUR][1000 genomes]
rs12440245	0.81[AMR][1000 genomes]
rs12440725	0.88[AMR][1000 genomes]
rs12440891	0.85[AMR][1000 genomes]
rs12441746	0.84[EUR][1000 genomes]
rs12441769	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441792	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12442630	0.93[AMR][1000 genomes]
rs12442642	0.85[AMR][1000 genomes]
rs12442662	0.88[AMR][1000 genomes]
rs12442839	0.85[AMR][1000 genomes]
rs12443125	0.81[AMR][1000 genomes]
rs12443178	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12903143	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12907983	0.89[EUR][1000 genomes]
rs1364541	0.93[AMR][1000 genomes]
rs1529597	0.88[AMR][1000 genomes]
rs1600829	0.89[EUR][1000 genomes]
rs1600831	0.84[EUR][1000 genomes]
rs1631905	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647386	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647391	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977123	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238880	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17238894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238950	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17238971	0.82[AMR][1000 genomes]
rs17819592	0.89[EUR][1000 genomes]
rs17819616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819646	0.88[AMR][1000 genomes]
rs17819658	0.85[AMR][1000 genomes]
rs17819664	0.85[AMR][1000 genomes]
rs1834199	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2052641	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2161935	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899599	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4287503	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4362334	0.88[AMR][1000 genomes]
rs4424865	0.93[AMR][1000 genomes]
rs4774885	0.89[EUR][1000 genomes]
rs480701	0.89[EUR][1000 genomes]
rs6493888	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7176472	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74015901	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs966807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57091200-57104200	Weak transcription	Aorta	Aorta
2	chr15:57095200-57099800	Weak transcription	Thymus	Thymus
3	chr15:57095800-57098000	Enhancers	Primary B cells from peripheral blood	blood
4	chr15:57097000-57098000	Weak transcription	Primary B cells from cord blood	blood
5	chr15:57097200-57098000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:57097200-57098000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:57097200-57098000	Enhancers	Brain Germinal Matrix	brain
8	chr15:57097200-57098600	Active TSS	Ovary	ovary
9	chr15:57097400-57098000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:57097400-57098000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:57097400-57098200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr15:57097400-57098600	Active TSS	Brain Anterior Caudate	brain
13	chr15:57097400-57098600	Active TSS	Brain Hippocampus Middle	brain
14	chr15:57097400-57098600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr15:57097400-57098600	Active TSS	Brain Substantia Nigra	brain
16	chr15:57097600-57098200	Enhancers	HMEC	breast
17	chr15:57097600-57098200	Flanking Active TSS	HSMMtube	muscle
18	chr15:57097600-57098400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr15:57097600-57098600	Flanking Active TSS	NH-A	brain
20	chr15:57097600-57098800	Active TSS	Brain Cingulate Gyrus	brain
21	chr15:57097800-57098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:57097800-57098000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:57097800-57098000	Active TSS	Adipose Nuclei	Adipose
24	chr15:57097800-57098000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr15:57097800-57098200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:57097800-57098200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:57097800-57098200	Active TSS	Psoas Muscle	Psoas
28	chr15:57097800-57098200	Flanking Active TSS	A549	lung
29	chr15:57097800-57098200	Flanking Active TSS	HSMM	muscle
30	chr15:57097800-57098200	Flanking Active TSS	NHDF-Ad	bronchial
31	chr15:57097800-57098400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:57097800-57098400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:57097800-57098400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr15:57097800-57098400	Active TSS	Brain Angular Gyrus	brain
35	chr15:57097800-57098400	Active TSS	Duodenum Mucosa	Duodenum
36	chr15:57097800-57098400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr15:57097800-57098400	Flanking Active TSS	GM12878-XiMat	blood
38	chr15:57097800-57098600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr15:57097800-57098600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:57097800-57098600	Active TSS	Right Atrium	heart
41	chr15:57097800-57098600	Flanking Active TSS	HUVEC	blood vessel
42	chr15:57097800-57098600	Flanking Active TSS	NHEK	skin
43	chr15:57097800-57098600	Flanking Active TSS	Osteobl	bone
44	chr15:57097800-57098800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:57097800-57098800	Flanking Active TSS	Hela-S3	cervix
46	chr15:57097800-57099000	Enhancers	Stomach Mucosa	stomach

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