Variant report

Variant	rs12440152
Chromosome Location	chr15:50762220-50762221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50757865..50759498-chr15:50761115..50762752,2	K562	blood:
2	chr15:50760410..50763305-chr15:50781533..50783933,2	MCF-7	breast:
3	chr15:50762171..50763717-chr15:50791449..50793980,2	K562	blood:
4	chr15:50753494..50757825-chr15:50759716..50762728,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252376	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000242737	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10519276	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070774	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070775	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070777	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070778	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070779	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070780	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070781	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070785	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070786	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070787	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070788	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11630309	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11631351	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11631398	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632697	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632708	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632823	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633608	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633624	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633765	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11634832	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637031	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11637104	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637111	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638198	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638390	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12439248	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17519466	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597915	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17598061	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2414044	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414045	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34659874	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4380013	0.84[EUR][1000 genomes]
rs4774569	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774570	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774571	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775883	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775884	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775885	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775886	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775888	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775889	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016938	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016939	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016942	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016943	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016944	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016945	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016947	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019074	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019075	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019076	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019077	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019078	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019079	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019080	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019082	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019084	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019087	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019112	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019113	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019115	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62019116	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62019117	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7165464	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168783	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169778	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7170114	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7181536	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7182569	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182980	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7494907	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8030373	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8037446	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037553	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs934636	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong 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	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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 target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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 target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv1049576	chr15:50744781-50843495	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
12	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
3	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
4	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
5	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:50734000-50763200	Weak transcription	Brain Anterior Caudate	brain
7	chr15:50734000-50776400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
9	chr15:50734600-50772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:50735400-50764600	Weak transcription	Psoas Muscle	Psoas
11	chr15:50735600-50773000	Weak transcription	Brain Substantia Nigra	brain
12	chr15:50737200-50764800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:50738200-50796800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:50740200-50777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:50740800-50770200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:50741800-50797000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:50744000-50782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:50744000-50789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:50745400-50771200	Weak transcription	NHLF	lung
20	chr15:50745600-50773800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:50746200-50794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:50746400-50767200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:50747600-50764600	Weak transcription	Aorta	Aorta
24	chr15:50747600-50764600	Weak transcription	Gastric	stomach
25	chr15:50747800-50763600	Weak transcription	Brain Angular Gyrus	brain
26	chr15:50747800-50763600	Weak transcription	Brain Germinal Matrix	brain
27	chr15:50747800-50772800	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:50748000-50768200	Weak transcription	HUVEC	blood vessel
29	chr15:50748200-50770800	Weak transcription	Fetal Brain Female	brain
30	chr15:50748400-50773000	Weak transcription	Colonic Mucosa	Colon
31	chr15:50748400-50782400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:50748400-50785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:50750000-50794400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:50750400-50777000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:50750600-50766600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:50750800-50775200	Strong transcription	Fetal Intestine Large	intestine
37	chr15:50751000-50779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:50751000-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:50751000-50796600	Strong transcription	Fetal Thymus	thymus
40	chr15:50751200-50779000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:50751400-50775600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr15:50753000-50764600	Weak transcription	Spleen	Spleen
43	chr15:50753400-50769000	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:50753600-50767200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr15:50753600-50783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:50754000-50776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:50754400-50797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:50755600-50762400	Weak transcription	HepG2	liver
49	chr15:50755600-50766000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:50755600-50768200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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