Variant report

Variant	rs60494920
Chromosome Location	chr12:50922483-50922484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50919290..50923217-chr12:50923759..50928110,5	MCF-7	breast:
2	chr12:50918697..50921193-chr12:50921774..50924636,2	K562	blood:
3	chr12:50900950..50904807-chr12:50918762..50923043,5	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10506293	0.90[EUR][1000 genomes]
rs10506296	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10735826	0.99[ASN][1000 genomes]
rs10783367	0.97[ASN][1000 genomes]
rs10783368	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.99[ASN][1000 genomes]
rs10876044	0.99[ASN][1000 genomes]
rs10876048	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876054	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876057	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876082	0.86[EUR][1000 genomes]
rs10876083	0.86[EUR][1000 genomes]
rs11169422	0.90[EUR][1000 genomes]
rs11169553	0.86[EUR][1000 genomes]
rs11614911	0.99[ASN][1000 genomes]
rs12099511	0.90[EUR][1000 genomes]
rs12099615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12296379	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307602	0.90[EUR][1000 genomes]
rs12320201	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817256	0.94[ASN][1000 genomes]
rs13328926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1402693	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1521515	0.86[EUR][1000 genomes]
rs1521517	0.95[EUR][1000 genomes]
rs17119774	0.90[EUR][1000 genomes]
rs17124672	0.90[EUR][1000 genomes]
rs17124888	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17124907	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1815010	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1996750	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2246840	0.86[EUR][1000 genomes]
rs2252595	0.91[EUR][1000 genomes]
rs2684886	0.86[EUR][1000 genomes]
rs2684890	0.86[EUR][1000 genomes]
rs2684891	0.86[EUR][1000 genomes]
rs2684902	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2684906	0.95[EUR][1000 genomes]
rs2700486	0.86[EUR][1000 genomes]
rs28414775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28479152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2947617	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3803181	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3825401	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4129355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4132432	0.82[AMR][1000 genomes]
rs4143663	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4257057	0.90[EUR][1000 genomes]
rs4306347	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4450234	0.90[EUR][1000 genomes]
rs4517607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562889	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768848	0.91[ASN][1000 genomes]
rs4768885	0.99[ASN][1000 genomes]
rs4768886	0.99[ASN][1000 genomes]
rs4768887	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768894	0.89[ASN][1000 genomes]
rs4768915	0.86[EUR][1000 genomes]
rs4768920	0.86[EUR][1000 genomes]
rs56671180	0.90[EUR][1000 genomes]
rs56753963	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56818625	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57283487	0.90[EUR][1000 genomes]
rs57293958	0.90[EUR][1000 genomes]
rs57328764	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57512759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57578212	0.90[EUR][1000 genomes]
rs57811009	0.90[EUR][1000 genomes]
rs57828015	0.90[EUR][1000 genomes]
rs58301497	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58500867	0.90[EUR][1000 genomes]
rs58869591	0.85[EUR][1000 genomes]
rs58888905	0.90[EUR][1000 genomes]
rs58915267	0.85[EUR][1000 genomes]
rs58916974	0.90[EUR][1000 genomes]
rs58943330	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59194948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59284993	0.90[EUR][1000 genomes]
rs59683461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59696942	0.90[EUR][1000 genomes]
rs59968707	0.90[EUR][1000 genomes]
rs60010359	0.90[EUR][1000 genomes]
rs60198651	0.90[EUR][1000 genomes]
rs60201334	0.90[EUR][1000 genomes]
rs60239257	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60242613	0.90[EUR][1000 genomes]
rs60396677	0.90[EUR][1000 genomes]
rs60420087	0.90[EUR][1000 genomes]
rs60743903	0.90[EUR][1000 genomes]
rs60908906	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61578731	0.90[EUR][1000 genomes]
rs6580766	0.86[EUR][1000 genomes]
rs6580767	0.86[EUR][1000 genomes]
rs6580768	0.86[EUR][1000 genomes]
rs7131993	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132443	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7135222	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301125	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7302749	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303202	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7304262	0.90[EUR][1000 genomes]
rs7306387	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7310507	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7487645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7953880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7955176	0.90[EUR][1000 genomes]
rs7955310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957060	0.94[ASN][1000 genomes]
rs7969251	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7974480	0.90[EUR][1000 genomes]
rs7978443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7979184	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979474	0.86[EUR][1000 genomes]
rs939631	0.86[EUR][1000 genomes]
rs951591	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9634264	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738596	0.90[ASN][1000 genomes]
rs9804759	0.87[EUR][1000 genomes];0.93[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	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
2	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
3	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:50903600-50922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:50909000-50925400	Weak transcription	Lung	lung
7	chr12:50910800-50925400	Weak transcription	Placenta	Placenta
8	chr12:50911400-50924200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:50911400-50926400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50912000-50922800	Weak transcription	Psoas Muscle	Psoas
12	chr12:50912000-50923000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:50912000-50924200	Weak transcription	HMEC	breast
14	chr12:50912000-50925400	Weak transcription	Dnd41	blood
15	chr12:50912000-50926000	Weak transcription	Osteobl	bone
16	chr12:50912000-50926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:50912200-50925200	Weak transcription	HUVEC	blood vessel
18	chr12:50912600-50922800	Weak transcription	Small Intestine	intestine
19	chr12:50912800-50922800	Weak transcription	Left Ventricle	heart
20	chr12:50914800-50926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:50915000-50924400	Weak transcription	Fetal Thymus	thymus
22	chr12:50915600-50925800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:50915600-50926400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:50916200-50925400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:50916400-50926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:50917200-50923600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:50918400-50923400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:50918400-50925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:50918600-50922800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:50918600-50925200	Weak transcription	K562	blood
32	chr12:50918600-50925800	Weak transcription	HSMM	muscle
33	chr12:50918600-50926400	Weak transcription	Fetal Lung	lung
34	chr12:50918800-50922800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:50918800-50923000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:50918800-50923000	Weak transcription	Spleen	Spleen
37	chr12:50918800-50924200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:50919000-50926000	Weak transcription	Thymus	Thymus
40	chr12:50919000-50926600	Enhancers	Brain Substantia Nigra	brain
41	chr12:50919200-50923400	Enhancers	Stomach Mucosa	stomach
42	chr12:50919400-50923400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:50919400-50923600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:50919400-50925400	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:50919800-50922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:50920200-50926400	Weak transcription	Right Ventricle	heart
47	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
48	chr12:50920400-50922800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:50920400-50923200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:50920400-50926200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links