Variant report

Variant	rs67701624
Chromosome Location	chr12:50928938-50928939
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50925165..50930036-chr12:51011670..51016786,5	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10747586	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10783367	0.86[EUR][1000 genomes]
rs10783377	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783380	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10876041	0.87[EUR][1000 genomes]
rs10876044	0.87[EUR][1000 genomes]
rs10876046	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11609231	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11609506	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11611288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11614911	0.86[EUR][1000 genomes]
rs11832315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12821270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2251603	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2252589	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2684889	0.80[AMR][1000 genomes]
rs2684898	0.83[EUR][1000 genomes]
rs2684900	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2684901	0.82[EUR][1000 genomes]
rs2700479	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2700480	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2700482	0.80[AMR][1000 genomes]
rs2731439	0.80[AMR][1000 genomes]
rs2731440	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2731442	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768885	0.89[EUR][1000 genomes]
rs4768886	0.89[EUR][1000 genomes]
rs55939211	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56089074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56104942	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66597435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66644594	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68171620	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7131795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7135837	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7300979	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305655	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7307815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7957060	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67701624	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
2	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
6	chr12:50920400-50931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:50920800-50929200	Weak transcription	Fetal Stomach	stomach
8	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
9	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
10	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:50921000-50929200	Enhancers	Liver	Liver
12	chr12:50921000-50939400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:50921000-50940200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50921200-50939800	Weak transcription	Brain Germinal Matrix	brain
15	chr12:50923400-50939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:50923600-50939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:50924000-50929000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:50924200-50929200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:50924400-50931400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:50924600-50929200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:50925000-50929000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:50925200-50929000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:50925200-50929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:50925200-50929200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:50925200-50929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:50925200-50929200	Enhancers	Small Intestine	intestine
27	chr12:50925400-50929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:50925400-50931000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:50925600-50929000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:50926200-50929000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:50926400-50929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:50926600-50929000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:50926600-50931000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:50926600-50931200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:50926600-50931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:50926600-50932000	Weak transcription	Lung	lung
37	chr12:50926600-50939200	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:50926800-50929000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:50926800-50929200	Enhancers	HepG2	liver
40	chr12:50926800-50931200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:50926800-50931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:50926800-50931200	Weak transcription	Brain Angular Gyrus	brain
43	chr12:50926800-50931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:50927200-50931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:50927200-50931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:50927200-50931200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:50927200-50931200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:50927200-50931600	Weak transcription	Right Ventricle	heart
49	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
50	chr12:50927400-50929000	Enhancers	K562	blood

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