Variant report

Variant	rs73281577
Chromosome Location	chr12:45802995-45802996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45802185..45803930-chr12:46119487..46121035,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11183016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11543435	0.80[AFR][1000 genomes]
rs35213944	0.80[AFR][1000 genomes]
rs57266792	0.84[AFR][1000 genomes]
rs58337263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58640880	0.80[AFR][1000 genomes]
rs59030619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60534803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61471266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.80[AFR][1000 genomes]
rs73281412	0.80[AFR][1000 genomes]
rs73281450	0.84[AFR][1000 genomes]
rs73281506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281553	1.00[AFR][1000 genomes]
rs73281555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281585	1.00[AFR][1000 genomes]
rs73281588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283345	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283347	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283357	0.88[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
4	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:45772600-45815400	Weak transcription	K562	blood
9	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:45780400-45829800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:45783200-45818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:45783400-45826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:45786200-45805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:45786200-45806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:45786200-45809200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:45786400-45806200	Weak transcription	Esophagus	oesophagus
19	chr12:45786600-45803600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:45786600-45803800	Weak transcription	Gastric	stomach
21	chr12:45786600-45806000	Weak transcription	Ovary	ovary
22	chr12:45786600-45827000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:45792000-45828600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:45792600-45822600	Weak transcription	Colonic Mucosa	Colon
25	chr12:45792600-45827000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:45792800-45811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:45793000-45803200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:45793000-45827600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:45794200-45807400	Strong transcription	A549	lung
30	chr12:45794200-45823200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:45794400-45807400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:45794600-45803000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:45794600-45804400	Strong transcription	HMEC	breast
34	chr12:45794600-45806800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:45794600-45809200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:45794600-45812200	Weak transcription	Fetal Brain Male	brain
37	chr12:45794800-45807600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:45795000-45812200	Weak transcription	Fetal Brain Female	brain
39	chr12:45795200-45803000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:45795200-45808000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:45795200-45813200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:45795200-45817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:45795400-45813400	Strong transcription	Dnd41	blood
44	chr12:45795600-45803600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:45795600-45807000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:45795600-45807600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:45795600-45825600	Strong transcription	Fetal Intestine Large	intestine
48	chr12:45795800-45806800	Strong transcription	Placenta	Placenta
49	chr12:45795800-45808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:45796000-45804000	Weak transcription	Brain Germinal Matrix	brain

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