Variant report

Variant	rs73281507
Chromosome Location	chr12:45743460-45743461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45734789..45737221-chr12:45742624..45745362,2	MCF-7	breast:
2	chr12:45742005..45743566-chr12:45762222..45763999,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11183016	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57266792	0.80[AFR][1000 genomes]
rs58337263	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59030619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60534803	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61471266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.84[AFR][1000 genomes]
rs73281412	0.84[AFR][1000 genomes]
rs73281450	0.80[AFR][1000 genomes]
rs73281506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281508	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281519	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281553	0.96[AFR][1000 genomes]
rs73281555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281565	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281566	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281581	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281585	0.96[AFR][1000 genomes]
rs73281588	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283310	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283320	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283323	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283340	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283345	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283347	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283352	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283355	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283357	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
3	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:45700000-45743600	Weak transcription	Gastric	stomach
5	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
6	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
7	chr12:45720600-45743600	Weak transcription	Lung	lung
8	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
9	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
13	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:45737800-45743600	Weak transcription	Right Ventricle	heart
16	chr12:45737800-45744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:45737800-45744400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:45738000-45744000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:45738800-45743600	Weak transcription	Fetal Intestine Small	intestine
20	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:45739400-45744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:45739400-45744200	Weak transcription	Fetal Heart	heart
25	chr12:45739800-45746600	Strong transcription	Primary T cells from cord blood	blood
26	chr12:45740000-45747800	Strong transcription	Fetal Thymus	thymus
27	chr12:45740400-45743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:45740400-45743800	Strong transcription	Primary B cells from cord blood	blood
29	chr12:45740400-45744400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:45740400-45745600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:45740400-45745600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:45740400-45745800	Strong transcription	Left Ventricle	heart
33	chr12:45740400-45746000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:45740400-45746200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:45740400-45746200	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:45740400-45746600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:45740400-45747200	Strong transcription	Fetal Intestine Large	intestine
38	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:45740600-45743600	Strong transcription	Thymus	Thymus
40	chr12:45740600-45744000	Weak transcription	Aorta	Aorta
41	chr12:45740600-45744200	Strong transcription	Dnd41	blood
42	chr12:45740600-45745400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:45740600-45745600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:45740600-45745600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:45740600-45745800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:45740600-45746000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:45740600-45746200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:45740800-45744000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr12:45740800-45745800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:45740800-45748200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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