Variant report

Variant	rs62043871
Chromosome Location	chr15:55977300-55977301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10518817	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10851589	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12373006	0.81[ASN][1000 genomes]
rs12438177	0.81[ASN][1000 genomes]
rs12591246	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12592192	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12594642	0.89[AMR][1000 genomes]
rs12903822	0.80[ASN][1000 genomes]
rs1371056	0.89[AMR][1000 genomes]
rs1530087	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16976450	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16976472	0.92[ASN][1000 genomes]
rs2414424	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2414426	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2414427	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4774799	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4774800	0.88[ASN][1000 genomes]
rs4774802	0.80[ASN][1000 genomes]
rs550226	0.88[EUR][1000 genomes]
rs572531	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62043869	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62043872	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6493805	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71110312	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs715321	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7162879	0.92[ASN][1000 genomes]
rs7165778	0.83[ASN][1000 genomes]
rs7166952	0.86[ASN][1000 genomes]
rs7171318	0.86[ASN][1000 genomes]
rs7171522	0.87[ASN][1000 genomes]
rs7171834	0.87[ASN][1000 genomes]
rs7178379	0.87[ASN][1000 genomes]
rs7180112	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8034113	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9920076	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9920246	0.84[ASN][1000 genomes]
rs9920262	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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 miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv457158	chr15:55930542-55982257	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv569541	chr15:55930542-55982257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55920800-55987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:55932600-55987000	Weak transcription	Ovary	ovary
3	chr15:55954000-55977400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:55954400-55987000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:55955400-55980000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:55958200-55977600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:55958800-55977400	Weak transcription	Left Ventricle	heart
8	chr15:55960400-55977600	Weak transcription	Placenta	Placenta
9	chr15:55960800-55995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:55963400-55980200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:55969000-55987000	Weak transcription	Fetal Lung	lung
12	chr15:55969200-55980200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:55969200-55986000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:55969400-55980200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:55970400-55977800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:55970800-55977400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:55972000-55986400	Weak transcription	Fetal Intestine Large	intestine
18	chr15:55974200-55978600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:55974600-55977800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:55976000-55978200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:55976000-55986400	Weak transcription	Hela-S3	cervix
22	chr15:55976000-55986800	Weak transcription	Fetal Kidney	kidney
23	chr15:55976200-55979400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:55976200-55980200	Weak transcription	HSMM	muscle
25	chr15:55976200-55980400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:55976200-55985800	Weak transcription	A549	lung
27	chr15:55976400-55977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:55976800-55977600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr15:55976800-55979000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:55976800-55981400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:55977000-55977400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:55977000-55977800	Flanking Active TSS	GM12878-XiMat	blood
33	chr15:55977200-55978200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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