Variant report

Variant	rs7305360
Chromosome Location	chr12:122890472-122890473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122887097..122891186-chr12:122896000..122898774,4	MCF-7	breast:
2	chr12:122889409..122891906-chr12:122906813..122910436,4	K562	blood:
3	chr12:122889494..122894024-chr12:122904569..122907676,8	MCF-7	breast:
4	chr12:122888608..122890909-chr12:122907280..122910436,3	K562	blood:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10161184	0.82[EUR][1000 genomes]
rs10161488	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744218	0.89[EUR][1000 genomes]
rs10773090	0.87[EUR][1000 genomes]
rs10773108	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10773117	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10773162	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846714	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10846852	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846871	0.93[ASN][1000 genomes]
rs10846899	0.81[ASN][1000 genomes]
rs10846912	0.89[EUR][1000 genomes]
rs11057514	0.80[EUR][1000 genomes]
rs11057686	0.83[EUR][1000 genomes]
rs11057813	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057819	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058272	0.87[EUR][1000 genomes]
rs1129167	0.82[EUR][1000 genomes]
rs11503023	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11830957	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12314537	0.89[EUR][1000 genomes]
rs12812332	0.90[EUR][1000 genomes]
rs12818177	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12819355	0.81[ASN][1000 genomes]
rs12828876	0.82[EUR][1000 genomes]
rs12829449	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1392142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1532579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553178	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2341438	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825096	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4758664	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4758665	0.80[EUR][1000 genomes]
rs4758693	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758695	0.84[ASN][1000 genomes]
rs61021925	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6488947	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7313121	0.87[EUR][1000 genomes]
rs7313284	0.87[EUR][1000 genomes]
rs7953204	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7955241	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7959550	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961258	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7964981	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7970007	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7972832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973480	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7974160	0.81[EUR][1000 genomes]
rs7975492	0.81[EUR][1000 genomes]
rs7978119	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7978636	0.81[EUR][1000 genomes]
rs9788228	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:122862800-122895600	Weak transcription	Small Intestine	intestine
3	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
4	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122863800-122905000	Weak transcription	Dnd41	blood
6	chr12:122884600-122897600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:122884600-122905200	Weak transcription	Colonic Mucosa	Colon
8	chr12:122885200-122890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:122885200-122891200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:122885200-122891200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:122885200-122891200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:122885200-122891600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:122885200-122891600	Weak transcription	Brain Angular Gyrus	brain
14	chr12:122885200-122893800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:122885200-122897800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:122885200-122897800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:122885200-122902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122885200-122902600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:122885200-122904600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:122885200-122905200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:122885200-122905400	Weak transcription	Fetal Thymus	thymus
22	chr12:122885200-122905400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:122885200-122906000	Weak transcription	Ovary	ovary
24	chr12:122885400-122891400	Weak transcription	Fetal Kidney	kidney
25	chr12:122885400-122891800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:122885400-122895400	Weak transcription	Fetal Lung	lung
27	chr12:122885400-122896000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:122885400-122898200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:122885400-122905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:122885600-122897000	Weak transcription	HUVEC	blood vessel
31	chr12:122885600-122897400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:122885600-122905400	Weak transcription	NH-A	brain
33	chr12:122886000-122891400	Weak transcription	HSMM	muscle
34	chr12:122886200-122892000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:122886200-122892400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:122886200-122896000	Weak transcription	Right Atrium	heart
37	chr12:122886200-122897600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:122886200-122905400	Weak transcription	Right Ventricle	heart
39	chr12:122886400-122891000	Weak transcription	NHDF-Ad	bronchial
40	chr12:122886600-122892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:122887000-122896600	Weak transcription	Left Ventricle	heart
42	chr12:122887200-122906200	Weak transcription	Lung	lung
43	chr12:122887400-122890600	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:122887600-122891200	Weak transcription	NHEK	skin
45	chr12:122887600-122904800	Weak transcription	HMEC	breast
46	chr12:122887800-122890600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122887800-122890800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:122887800-122890800	Weak transcription	HSMMtube	muscle
49	chr12:122887800-122891200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:122888000-122890600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links