Variant report

Variant	rs829119
Chromosome Location	chr12:51235718-51235719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:51235528-51235762	K562	blood:	n/a	n/a
2	ATF1	chr12:51235600-51235867	K562	blood:	n/a	n/a
3	FOXA1	chr12:51235626-51235862	T-47D	breast:	n/a	n/a
4	GATA1	chr12:51235437-51236309	PBDE	blood:	n/a	n/a
5	JUND	chr12:51235619-51235836	K562	blood:	n/a	n/a
6	MAFK	chr12:51235669-51235811	K562	blood:	n/a	n/a
7	ZNF384	chr12:51235582-51235934	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51155993..51157542-chr12:51233838..51236379,2	MCF-7	breast:

Variant related genes	Relation type
TMPRSS12	TF binding region
RN7SL519P	TF binding region
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10876079	1.00[EUR][1000 genomes]
rs1096028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11832566	1.00[EUR][1000 genomes]
rs11833478	1.00[EUR][1000 genomes]
rs12316220	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1595597	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1642998	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs17125155	1.00[MEX][hapmap]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	1.00[EUR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	1.00[EUR][1000 genomes]
rs2468378	1.00[EUR][1000 genomes]
rs2554869	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684895	1.00[EUR][1000 genomes]
rs2684896	1.00[EUR][1000 genomes]
rs2684897	1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[EUR][1000 genomes]
rs2684907	1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	1.00[EUR][1000 genomes]
rs2700483	1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731441	1.00[EUR][1000 genomes]
rs2731444	1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7973984	1.00[EUR][1000 genomes]
rs829116	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829117	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829118	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829121	0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829136	1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829137	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9943796	1.00[MEX][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51228400-51236600	Weak transcription	Gastric	stomach
2	chr12:51230800-51236000	Weak transcription	Pancreas	Pancrea
3	chr12:51233000-51236000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:51233400-51236600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51233600-51236400	Enhancers	Placenta	Placenta
6	chr12:51235000-51236400	Weak transcription	Esophagus	oesophagus
7	chr12:51235000-51236800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:51235200-51236200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:51235200-51236200	Enhancers	K562	blood
10	chr12:51235200-51236200	Weak transcription	NHEK	skin
11	chr12:51235200-51236400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:51235200-51236600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:51235200-51236600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:51235600-51235800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:51235600-51236000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:51235600-51236400	Enhancers	Fetal Muscle Leg	muscle

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