Variant report

Variant	rs16977123
Chromosome Location	chr15:57111311-57111312
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	chr15:57110627..57113537-chr15:57115289..57118029,2	K562	blood:
2	chr15:57107595..57111663-chr15:57111716..57115001,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10518872	0.82[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	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438572	0.87[AMR][1000 genomes]
rs12438728	0.89[EUR][1000 genomes]
rs12439116	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439563	0.89[EUR][1000 genomes]
rs12439697	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440006	0.89[EUR][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	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12442069	0.93[AMR][1000 genomes];1.00[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]
rs12443178	0.92[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	0.87[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	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647391	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238880	0.83[EUR][1000 genomes]
rs17238894	0.93[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	0.93[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	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2052641	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2161935	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899599	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4287503	0.87[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	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7176472	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74015901	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs966807	0.93[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57100200-57114000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:57100400-57111600	Weak transcription	Thymus	Thymus
3	chr15:57105000-57114000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:57105000-57114200	Weak transcription	Ovary	ovary
5	chr15:57106600-57112400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:57106600-57113400	Weak transcription	Psoas Muscle	Psoas
7	chr15:57106600-57113800	Weak transcription	Brain Substantia Nigra	brain
8	chr15:57109400-57113600	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:57109400-57114200	Weak transcription	Brain Angular Gyrus	brain
10	chr15:57109400-57114200	Weak transcription	Fetal Kidney	kidney
11	chr15:57109800-57113800	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:57109800-57114200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:57109800-57114200	Weak transcription	A549	lung
14	chr15:57110000-57111600	Weak transcription	Fetal Thymus	thymus
15	chr15:57110000-57111800	Weak transcription	HSMMtube	muscle
16	chr15:57110000-57112400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:57110000-57113600	Weak transcription	Adipose Nuclei	Adipose
18	chr15:57110000-57113600	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:57110000-57114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:57110000-57114000	Weak transcription	NHLF	lung
21	chr15:57110000-57114200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:57110000-57114200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:57110000-57114200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:57110000-57114200	Weak transcription	Fetal Stomach	stomach
25	chr15:57110000-57114200	Weak transcription	Right Atrium	heart
26	chr15:57110000-57114200	Weak transcription	NHEK	skin
27	chr15:57110000-57118600	Weak transcription	Aorta	Aorta
28	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
29	chr15:57110200-57112200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:57110200-57113800	Weak transcription	Fetal Heart	heart
31	chr15:57110200-57114200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:57110200-57114200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:57110200-57114200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:57110400-57112200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:57110400-57112400	Weak transcription	Brain Anterior Caudate	brain
36	chr15:57110400-57114000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:57110400-57114200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:57110400-57114200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:57110400-57114200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:57110400-57114200	Weak transcription	HMEC	breast
41	chr15:57110400-57114200	Weak transcription	HSMM	muscle
42	chr15:57110600-57114200	Weak transcription	Fetal Lung	lung
43	chr15:57110600-57114200	Weak transcription	NH-A	brain
44	chr15:57110600-57114200	Weak transcription	NHDF-Ad	bronchial
45	chr15:57110600-57114200	Weak transcription	Osteobl	bone
46	chr15:57110600-57114600	Weak transcription	Fetal Brain Male	brain
47	chr15:57110800-57114200	Weak transcription	Brain Germinal Matrix	brain

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