Variant report

Variant	rs4132432
Chromosome Location	chr12:50990218-50990219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50988872..50990700-chr12:51006546..51009118,2	MCF-7	breast:
2	chr12:50975463..50977998-chr12:50988989..50993005,3	K562	blood:
3	chr12:50987041..50990767-chr12:51006413..51009565,3	K562	blood:
4	chr12:50896574..50899072-chr12:50989675..50992643,3	K562	blood:
5	chr12:50984762..50986621-chr12:50989741..50991537,2	K562	blood:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10506296	0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs11169420	0.93[EUR][1000 genomes]
rs12099615	0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs13328926	0.82[AMR][1000 genomes]
rs1402693	0.90[MEX][hapmap];0.90[AMR][1000 genomes]
rs17124888	0.95[MEX][hapmap];0.86[AMR][1000 genomes]
rs17124907	0.82[AMR][1000 genomes]
rs1996750	0.90[AMR][1000 genomes]
rs28414775	0.82[AMR][1000 genomes]
rs28479152	0.82[AMR][1000 genomes]
rs3803181	0.82[AMR][1000 genomes]
rs3825401	0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs4143663	0.82[AMR][1000 genomes]
rs4306347	0.80[AMR][1000 genomes]
rs4340149	0.86[EUR][1000 genomes]
rs4517607	0.82[AMR][1000 genomes]
rs4562889	0.90[MEX][hapmap];0.90[AMR][1000 genomes]
rs55959035	0.93[EUR][1000 genomes]
rs56818625	0.82[AMR][1000 genomes]
rs57328764	0.82[AMR][1000 genomes]
rs57512759	0.82[AMR][1000 genomes]
rs58301497	0.82[AMR][1000 genomes]
rs58943330	0.86[AMR][1000 genomes]
rs59163743	0.93[EUR][1000 genomes]
rs59194948	0.82[AMR][1000 genomes]
rs59683461	0.82[AMR][1000 genomes]
rs60239257	0.81[AMR][1000 genomes]
rs60494920	0.82[AMR][1000 genomes]
rs60908906	0.86[AMR][1000 genomes]
rs6580745	0.93[EUR][1000 genomes]
rs7132443	0.82[AMR][1000 genomes]
rs7306387	0.90[AMR][1000 genomes]
rs7310507	0.83[AMR][1000 genomes]
rs74090120	0.93[EUR][1000 genomes]
rs7487645	0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs7953880	0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs7969251	0.82[AMR][1000 genomes]
rs7978443	0.82[AMR][1000 genomes]
rs7979184	0.82[AMR][1000 genomes]
rs951591	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
2	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
3	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:50975600-50991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:50975800-50991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:50976000-50993400	Weak transcription	Fetal Lung	lung
9	chr12:50976200-50991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:50977800-50990400	Weak transcription	Left Ventricle	heart
11	chr12:50978000-50991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:50979200-50991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
14	chr12:50979400-50991200	Weak transcription	Right Ventricle	heart
15	chr12:50979400-50991600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:50979400-50997200	Weak transcription	Pancreas	Pancrea
17	chr12:50979400-50997200	Weak transcription	Spleen	Spleen
18	chr12:50979600-50991400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:50979800-50991000	Weak transcription	A549	lung
20	chr12:50980000-50991200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:50981400-50991200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:50981400-50997400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:50981800-50991200	Weak transcription	Liver	Liver
24	chr12:50983600-50991000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:50983600-50991200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:50983600-50991200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:50983600-50991200	Weak transcription	NHLF	lung
28	chr12:50983600-50991600	Weak transcription	HSMMtube	muscle
29	chr12:50983800-50991000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:50983800-50991200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:50983800-50991200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:50983800-50991200	Weak transcription	GM12878-XiMat	blood
33	chr12:50983800-50991400	Weak transcription	Adipose Nuclei	Adipose
34	chr12:50984000-50991000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:50984000-50991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:50984000-50991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:50984000-50991200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:50984000-50991200	Weak transcription	NH-A	brain
39	chr12:50984000-50991400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:50984200-50990800	Weak transcription	NHEK	skin
41	chr12:50984200-50991000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:50984200-50991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:50984200-50991200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:50985000-50991200	Weak transcription	Placenta	Placenta
45	chr12:50986800-50991200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:50987800-50991200	Weak transcription	HSMM	muscle
47	chr12:50987800-50991400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:50988000-50991200	Weak transcription	Ovary	ovary
49	chr12:50988200-50991400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:50988800-50991200	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links