Variant report

Variant	rs17238901
Chromosome Location	chr15:57107182-57107183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57106197..57110196-chr15:57111997..57118015,6	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10518872	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11071285	0.89[EUR][1000 genomes]
rs12437635	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12437714	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12437735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437753	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12438377	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes]
rs12438572	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12438728	0.89[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes]
rs12439116	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes]
rs12439547	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12439563	0.89[EUR][1000 genomes]
rs12439697	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes]
rs12440006	0.89[EUR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12440725	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes]
rs12440891	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes]
rs12441746	0.84[EUR][1000 genomes]
rs12441769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12442069	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes]
rs12442630	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12442662	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12443178	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12903143	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12907983	0.89[EUR][1000 genomes]
rs1364541	0.90[AMR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1600829	0.89[EUR][1000 genomes]
rs1600831	0.84[EUR][1000 genomes]
rs1631905	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647386	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647391	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977123	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238880	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17238894	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17238971	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes]
rs17819592	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17819616	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819646	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes]
rs1834199	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2052641	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2161935	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899599	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4287503	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4362334	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4424865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs4774885	0.89[EUR][1000 genomes]
rs480701	0.89[EUR][1000 genomes]
rs6493888	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7176472	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74015901	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs966807	1.00[AFR][1000 genomes];0.97[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:38 , 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	chr15:57102200-57109200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:57102600-57109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:57104000-57107400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:57104600-57108400	Weak transcription	Right Ventricle	heart
7	chr15:57104600-57109200	Weak transcription	Aorta	Aorta
8	chr15:57104800-57110600	Enhancers	HUVEC	blood vessel
9	chr15:57105000-57108400	Weak transcription	Left Ventricle	heart
10	chr15:57105000-57109000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr15:57105000-57114000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:57105000-57114200	Weak transcription	Ovary	ovary
13	chr15:57105200-57109000	Weak transcription	Fetal Lung	lung
14	chr15:57105400-57109800	Weak transcription	Fetal Heart	heart
15	chr15:57106200-57107400	Enhancers	Fetal Thymus	thymus
16	chr15:57106400-57109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:57106600-57108400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:57106600-57108400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:57106600-57108400	Weak transcription	Adipose Nuclei	Adipose
20	chr15:57106600-57108400	Weak transcription	Right Atrium	heart
21	chr15:57106600-57108800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:57106600-57109000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:57106600-57109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:57106600-57109000	Weak transcription	Brain Angular Gyrus	brain
25	chr15:57106600-57109000	Weak transcription	NHDF-Ad	bronchial
26	chr15:57106600-57112400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:57106600-57113400	Weak transcription	Psoas Muscle	Psoas
28	chr15:57106600-57113800	Weak transcription	Brain Substantia Nigra	brain
29	chr15:57106800-57107400	Enhancers	HepG2	liver
30	chr15:57106800-57108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:57106800-57108400	Weak transcription	Osteobl	bone
32	chr15:57107000-57107200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:57107000-57107400	Enhancers	Small Intestine	intestine
34	chr15:57107000-57107400	Enhancers	Dnd41	blood
35	chr15:57107000-57107600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:57107000-57107800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:57107000-57108600	Enhancers	K562	blood
38	chr15:57107000-57109200	Weak transcription	Fetal Stomach	stomach

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