Variant report

Variant	rs28715020
Chromosome Location	chr15:43172280-43172281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11070385	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11631404	0.84[EUR][1000 genomes]
rs1197533	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12050604	0.84[EUR][1000 genomes]
rs1206698	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437637	0.84[EUR][1000 genomes]
rs12440652	0.81[EUR][1000 genomes]
rs12593576	0.82[ASN][1000 genomes]
rs12904179	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12913213	0.86[EUR][1000 genomes]
rs12913586	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13329073	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1381855	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126603	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2169581	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277532	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2682074	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28407836	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28646262	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28805017	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28890597	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4923952	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4923956	0.85[EUR][1000 genomes]
rs4924702	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56114844	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58745709	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62020697	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62020699	0.87[AMR][1000 genomes]
rs62020706	0.86[EUR][1000 genomes]
rs6493067	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493068	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7165888	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7167802	0.88[ASN][1000 genomes]
rs7168141	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7169603	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7173097	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7173782	0.83[EUR][1000 genomes]
rs7176915	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7178752	0.82[AMR][1000 genomes]
rs7182753	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7496079	0.84[EUR][1000 genomes]
rs8025479	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8028731	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028822	0.84[AMR][1000 genomes]
rs8035752	0.81[ASN][1000 genomes]
rs8036096	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9806175	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
3	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
6	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3490431	chr15:43148709-43190630	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3490432	chr15:43148709-43190630	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43103400-43173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:43119600-43172600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:43125400-43173600	Weak transcription	Hela-S3	cervix
4	chr15:43132000-43186800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr15:43132400-43172800	Weak transcription	Ovary	ovary
6	chr15:43136800-43182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:43142400-43182400	Weak transcription	Lung	lung
8	chr15:43151600-43182400	Weak transcription	Aorta	Aorta
9	chr15:43151800-43173000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:43151800-43178600	Weak transcription	Placenta	Placenta
11	chr15:43154200-43174000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:43154600-43182400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:43155000-43182600	Weak transcription	Primary T cells from cord blood	blood
14	chr15:43156000-43172400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:43156000-43172800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:43158000-43172600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:43158400-43172600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr15:43163400-43172600	Weak transcription	Left Ventricle	heart
19	chr15:43163400-43176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:43164000-43172600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:43166200-43175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:43171000-43172600	Weak transcription	Primary B cells from cord blood	blood
23	chr15:43171600-43172400	Enhancers	Liver	Liver
24	chr15:43171800-43172600	Enhancers	Brain Angular Gyrus	brain
25	chr15:43171800-43172600	Enhancers	Brain Substantia Nigra	brain
26	chr15:43172000-43172600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:43172000-43172800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:43172200-43174000	Weak transcription	Esophagus	oesophagus

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