Variant report

Variant	rs13328926
Chromosome Location	chr12:50912942-50912943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50901773..50903761-chr12:50910341..50913326,3	MCF-7	breast:
2	chr12:50906945..50910270-chr12:50912083..50914978,3	K562	blood:
3	chr12:50898826..50901477-chr12:50910809..50913079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10506293	0.90[EUR][1000 genomes]
rs10506296	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10735826	0.98[ASN][1000 genomes]
rs10783367	0.96[ASN][1000 genomes]
rs10783368	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876041	0.98[ASN][1000 genomes]
rs10876044	0.97[ASN][1000 genomes]
rs10876048	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876054	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876057	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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	0.98[ASN][1000 genomes]
rs12099511	0.90[EUR][1000 genomes]
rs12099615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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];0.89[ASN][1000 genomes]
rs12817256	0.93[ASN][1000 genomes]
rs1402693	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[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[AFR][1000 genomes];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	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[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];0.80[ASN][1000 genomes]
rs2684906	0.95[EUR][1000 genomes]
rs2700486	0.86[EUR][1000 genomes]
rs28414775	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28479152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2947617	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3803181	0.85[AFR][1000 genomes];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];0.91[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	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4450234	0.90[EUR][1000 genomes]
rs4517607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4562889	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768848	0.90[ASN][1000 genomes]
rs4768885	0.98[ASN][1000 genomes]
rs4768886	0.98[ASN][1000 genomes]
rs4768887	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768894	0.88[ASN][1000 genomes]
rs4768915	0.86[EUR][1000 genomes]
rs56671180	0.90[EUR][1000 genomes]
rs56753963	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56818625	0.81[AFR][1000 genomes];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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59194948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59284993	0.90[EUR][1000 genomes]
rs59683461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60242613	0.90[EUR][1000 genomes]
rs60396677	0.90[EUR][1000 genomes]
rs60420087	0.90[EUR][1000 genomes]
rs60494920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60743903	0.90[EUR][1000 genomes]
rs60908906	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61578731	0.90[EUR][1000 genomes]
rs7131993	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132443	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7135222	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7301125	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7302749	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303202	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7304262	0.90[EUR][1000 genomes]
rs7306387	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7310507	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7487645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7953880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7955176	0.90[EUR][1000 genomes]
rs7955310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957060	0.92[ASN][1000 genomes]
rs7969251	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7974480	0.90[EUR][1000 genomes]
rs7978443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7979184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7979474	0.86[EUR][1000 genomes]
rs939631	0.86[EUR][1000 genomes]
rs951591	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9634264	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9738596	0.88[ASN][1000 genomes]
rs9804759	0.87[EUR][1000 genomes];0.92[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
2	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
4	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:50901600-50915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:50903600-50922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:50906400-50915600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:50906400-50916400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:50907200-50915200	Enhancers	HepG2	liver
11	chr12:50907400-50917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:50907800-50913200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr12:50908800-50915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:50909000-50914000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:50909000-50915400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:50909000-50919800	Weak transcription	Right Ventricle	heart
17	chr12:50909000-50925400	Weak transcription	Lung	lung
18	chr12:50909800-50915000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:50910400-50913200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:50910800-50913000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:50910800-50914800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:50910800-50915000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:50910800-50925400	Weak transcription	Placenta	Placenta
24	chr12:50911000-50913400	Enhancers	Brain Anterior Caudate	brain
25	chr12:50911000-50913400	Enhancers	Brain Hippocampus Middle	brain
26	chr12:50911000-50915400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:50911200-50913200	Enhancers	Liver	Liver
28	chr12:50911200-50913400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:50911200-50915200	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:50911400-50916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50911400-50919400	Weak transcription	Fetal Brain Female	brain
32	chr12:50911400-50924200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:50911400-50926400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:50911600-50914000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:50911600-50914600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:50911600-50915000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:50911600-50919400	Weak transcription	Fetal Brain Male	brain
38	chr12:50911600-50919600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:50911600-50920800	Weak transcription	Fetal Intestine Large	intestine
40	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:50911800-50913600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:50911800-50914000	Enhancers	Primary T cells from cord blood	blood
43	chr12:50911800-50914200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:50911800-50915200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:50911800-50915200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:50911800-50917800	Weak transcription	Thymus	Thymus
47	chr12:50911800-50920000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:50912000-50913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:50912000-50914000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:50912000-50914000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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