Variant report

Variant	rs4758672
Chromosome Location	chr12:122898747-122898748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122896478..122900937-chr12:122902693..122908299,9	K562	blood:
2	chr12:122883594..122885269-chr12:122897504..122899407,2	K562	blood:
3	chr12:122896486..122899994-chr12:122905510..122908485,3	MCF-7	breast:
4	chr12:122894837..122901534-chr12:122904361..122908038,12	MCF-7	breast:
5	chr12:122832742..122835066-chr12:122897068..122899563,2	K562	blood:
6	chr12:122887097..122891186-chr12:122896000..122898774,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10846839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846854	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846879	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10846896	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11057562	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057787	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057801	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057810	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057832	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11057934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11058001	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058009	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11058010	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11058043	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058062	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11058064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058136	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058143	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058159	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058186	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058206	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058232	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11058237	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12229152	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12229345	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427143	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427421	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173581	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3817012	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4758661	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758694	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758697	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56861120	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56863652	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58062133	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58766840	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58853108	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954399	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61954405	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61954416	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61954418	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61954421	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954422	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61954424	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61954425	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61954427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61954441	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61954442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61954447	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954450	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8181750	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882969	0.80[AMR][1000 genomes];0.92[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:105 , 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	chr12:122863800-122905000	Weak transcription	Dnd41	blood
3	chr12:122884600-122905200	Weak transcription	Colonic Mucosa	Colon
4	chr12:122885200-122902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:122885200-122902600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:122885200-122904600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:122885200-122905200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:122885200-122905400	Weak transcription	Fetal Thymus	thymus
9	chr12:122885200-122905400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:122885200-122906000	Weak transcription	Ovary	ovary
11	chr12:122885400-122905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:122885600-122905400	Weak transcription	NH-A	brain
13	chr12:122886200-122905400	Weak transcription	Right Ventricle	heart
14	chr12:122887200-122906200	Weak transcription	Lung	lung
15	chr12:122887600-122904800	Weak transcription	HMEC	breast
16	chr12:122888800-122905000	Weak transcription	Esophagus	oesophagus
17	chr12:122889000-122904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:122889000-122905000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:122890000-122905000	Weak transcription	Primary T cells from cord blood	blood
20	chr12:122890600-122901200	Weak transcription	Fetal Stomach	stomach
21	chr12:122891000-122900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122891000-122900400	Weak transcription	Placenta	Placenta
23	chr12:122891000-122903000	Weak transcription	Pancreas	Pancrea
24	chr12:122891000-122905200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:122892200-122901000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:122892200-122902600	Weak transcription	NHLF	lung
27	chr12:122892200-122904000	Weak transcription	HSMMtube	muscle
28	chr12:122892200-122904800	Weak transcription	Brain Angular Gyrus	brain
29	chr12:122892400-122899000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:122892600-122905000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:122892800-122902200	Weak transcription	HepG2	liver
32	chr12:122895200-122905200	Weak transcription	Fetal Heart	heart
33	chr12:122895400-122899000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:122895600-122899200	Enhancers	Colon Smooth Muscle	Colon
35	chr12:122896000-122898800	Weak transcription	Fetal Intestine Small	intestine
36	chr12:122896000-122903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:122896200-122904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:122896200-122905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:122896400-122898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:122896400-122905600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:122896600-122899000	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:122896600-122899000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:122897000-122899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122897200-122898800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:122897200-122898800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:122897200-122899200	Enhancers	Liver	Liver
47	chr12:122897200-122903200	Weak transcription	Left Ventricle	heart
48	chr12:122897200-122905000	Weak transcription	Spleen	Spleen
49	chr12:122897400-122898800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:122897400-122898800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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