Variant report

Variant	rs74078176
Chromosome Location	chr12:42536056-42536057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42531740..42536122-chr12:42718714..42721599,4	MCF-7	breast:
2	chr12:42531594..42533278-chr12:42535914..42538108,2	K562	blood:
3	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
4	chr12:42526307..42530299-chr12:42534078..42537991,4	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1079985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17090843	1.00[AMR][1000 genomes]
rs17090865	1.00[AMR][1000 genomes]
rs17090974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17090988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1982507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55699566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56126783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56183709	1.00[AMR][1000 genomes]
rs56315321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56400220	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56404347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57096261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58480950	1.00[AMR][1000 genomes]
rs58745493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60164617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077451	1.00[AMR][1000 genomes]
rs74077472	1.00[AMR][1000 genomes]
rs74077474	1.00[AMR][1000 genomes]
rs74077475	1.00[AMR][1000 genomes]
rs74077477	1.00[AMR][1000 genomes]
rs74077485	1.00[AMR][1000 genomes]
rs74077492	1.00[AMR][1000 genomes]
rs74077499	1.00[AMR][1000 genomes]
rs74077816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078011	1.00[AMR][1000 genomes]
rs74078049	0.85[AFR][1000 genomes]
rs74078160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078179	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74081065	0.95[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42505800-42537000	Weak transcription	Fetal Stomach	stomach
2	chr12:42505800-42537000	Weak transcription	Lung	lung
3	chr12:42512000-42537400	Weak transcription	Ovary	ovary
4	chr12:42512400-42537000	Weak transcription	Placenta	Placenta
5	chr12:42513000-42537000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:42513200-42537200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:42519000-42537000	Weak transcription	Right Atrium	heart
8	chr12:42519200-42537400	Weak transcription	Small Intestine	intestine
9	chr12:42519600-42537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:42519800-42536800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:42519800-42537000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:42522600-42537000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:42524000-42537200	Weak transcription	Aorta	Aorta
14	chr12:42524600-42537000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:42524800-42537000	Weak transcription	Fetal Kidney	kidney
16	chr12:42524800-42537000	Weak transcription	Gastric	stomach
17	chr12:42524800-42537200	Weak transcription	Left Ventricle	heart
18	chr12:42524800-42537200	Weak transcription	Psoas Muscle	Psoas
19	chr12:42525600-42536800	Weak transcription	HUVEC	blood vessel
20	chr12:42529000-42537000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:42529600-42537000	Weak transcription	NHLF	lung
22	chr12:42529800-42536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:42529800-42537000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:42531600-42537200	Weak transcription	Right Ventricle	heart
25	chr12:42531800-42537200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:42532000-42536400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:42532000-42537000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:42532000-42537000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:42532000-42537400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:42532600-42536800	Enhancers	HepG2	liver
31	chr12:42533600-42536200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:42533600-42536800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:42533800-42537800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:42534000-42537200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:42534200-42536800	Enhancers	A549	lung
36	chr12:42534400-42537000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:42534600-42536200	Enhancers	Liver	Liver
38	chr12:42534600-42536400	Weak transcription	K562	blood
39	chr12:42534600-42537000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:42534600-42537000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:42534600-42538800	Active TSS	GM12878-XiMat	blood
42	chr12:42534800-42537000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:42534800-42537000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:42534800-42537200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:42535000-42536200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:42535000-42536400	Weak transcription	NHEK	skin
47	chr12:42535000-42536600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:42535000-42536600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:42535000-42536600	Weak transcription	Fetal Heart	heart
50	chr12:42535000-42536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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