Variant report

Variant	rs4270152
Chromosome Location	chr15:44224668-44224669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11853395	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1561458	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs16948098	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16948586	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16948660	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16949992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623015	0.82[EUR][1000 genomes]
rs28654093	0.97[EUR][1000 genomes]
rs2918952	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs2929275	1.00[CEU][hapmap];0.93[TSI][hapmap]
rs2929279	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2929282	0.82[EUR][1000 genomes]
rs2930523	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2930524	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs34497759	0.82[EUR][1000 genomes]
rs4321171	0.97[EUR][1000 genomes]
rs481837	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs483800	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs492571	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs545119	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56793082	0.90[EUR][1000 genomes]
rs57143137	0.97[ASN][1000 genomes]
rs59561000	0.93[EUR][1000 genomes]
rs59569210	0.94[ASN][1000 genomes]
rs7166823	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7179287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs74009159	0.97[EUR][1000 genomes]
rs74009160	0.97[EUR][1000 genomes]
rs8035382	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs8035402	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs8035689	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4270152	LOC440278	cis	multi-tissue	Pritchard

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44211800-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:44212400-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:44218000-44225600	Enhancers	Fetal Heart	heart
4	chr15:44218600-44228400	Enhancers	Brain Substantia Nigra	brain
5	chr15:44219600-44225000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:44219600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:44219800-44225200	Weak transcription	NHEK	skin
8	chr15:44220400-44227400	Enhancers	Brain Cingulate Gyrus	brain
9	chr15:44220400-44227600	Enhancers	Brain Hippocampus Middle	brain
10	chr15:44220800-44227400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr15:44221000-44225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:44221200-44227400	Enhancers	Brain Anterior Caudate	brain
13	chr15:44221400-44227200	Enhancers	Brain Angular Gyrus	brain
14	chr15:44221600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:44222200-44226600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:44222200-44227000	Enhancers	Osteobl	bone
17	chr15:44222600-44225200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:44222800-44225200	Weak transcription	NH-A	brain
19	chr15:44222800-44225400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:44223000-44224800	Weak transcription	HSMM	muscle
21	chr15:44223200-44225000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:44223200-44225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:44223200-44225000	Weak transcription	Left Ventricle	heart
24	chr15:44223200-44225000	Weak transcription	GM12878-XiMat	blood
25	chr15:44223200-44225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:44223200-44225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:44223200-44226400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:44223800-44225400	Enhancers	NHDF-Ad	bronchial
29	chr15:44223800-44225600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr15:44223800-44225600	Enhancers	Fetal Muscle Leg	muscle
31	chr15:44223800-44226400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:44224000-44225000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:44224000-44225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:44224000-44226000	Enhancers	HSMMtube	muscle
35	chr15:44224000-44226400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:44224200-44225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:44224400-44224800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:44224400-44224800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:44224400-44225400	Enhancers	Right Atrium	heart
40	chr15:44224400-44225800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:44224600-44224800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:44224600-44225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:44224600-44227600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links