Variant report

Variant	rs4768723
Chromosome Location	chr12:46845724-46845725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46844776..46847490-chr12:46885701..46888274,3	MCF-7	breast:
2	chr12:46795569..46797516-chr12:46843995..46846223,2	K562	blood:
3	chr12:46765422..46767944-chr12:46845143..46847052,2	K562	blood:
4	chr12:46844381..46845899-chr12:46880560..46882516,2	K562	blood:
5	chr12:46763834..46766183-chr12:46843952..46846044,2	MCF-7	breast:
6	chr12:46844018..46846962-chr12:46848048..46851671,5	MCF-7	breast:
7	chr12:46776333..46778446-chr12:46844247..46846272,4	MCF-7	breast:
8	chr12:46758263..46759953-chr12:46843833..46845880,2	K562	blood:
9	chr12:46775191..46782074-chr12:46843960..46851522,20	MCF-7	breast:
10	chr12:46764643..46767852-chr12:46844280..46846838,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000257496	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10748448	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10748450	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10785627	0.87[EUR][1000 genomes]
rs10785628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10785629	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10880947	0.84[MEX][hapmap]
rs10880967	0.86[EUR][1000 genomes]
rs10880968	0.86[EUR][1000 genomes]
rs10880969	0.85[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs10880970	0.87[EUR][1000 genomes]
rs10880971	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880973	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10880974	0.85[AMR][1000 genomes]
rs11183456	1.00[CHB][hapmap]
rs11183478	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs11183479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11183483	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs11183484	0.91[EUR][1000 genomes]
rs11183486	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11183488	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183502	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11183503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11183504	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1125909	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11837427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12099669	0.84[EUR][1000 genomes]
rs12298616	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12313929	0.85[AMR][1000 genomes]
rs12314541	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12319162	0.91[EUR][1000 genomes]
rs12813763	0.89[MEX][hapmap];0.82[TSI][hapmap]
rs12822345	0.85[EUR][1000 genomes]
rs12824565	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs12827740	0.90[AMR][1000 genomes]
rs12832777	0.88[EUR][1000 genomes]
rs1472178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs1472179	0.86[EUR][1000 genomes]
rs1492895	0.86[EUR][1000 genomes]
rs2045556	0.86[CHB][hapmap]
rs2131371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2220727	0.86[EUR][1000 genomes]
rs2252238	0.93[CHD][hapmap]
rs2408498	0.86[EUR][1000 genomes]
rs2897951	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3925101	0.85[AMR][1000 genomes]
rs3936214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4072304	0.88[EUR][1000 genomes]
rs4076247	0.85[EUR][1000 genomes]
rs4077707	0.95[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4077708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4258438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4427617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4768118	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4768119	0.87[EUR][1000 genomes]
rs4768122	0.88[EUR][1000 genomes]
rs4768123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768699	0.82[CEU][hapmap];0.89[GIH][hapmap]
rs4768709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4768710	0.86[EUR][1000 genomes]
rs4768711	0.81[EUR][1000 genomes]
rs4768712	0.86[EUR][1000 genomes]
rs4768713	0.87[EUR][1000 genomes]
rs4768714	0.87[EUR][1000 genomes]
rs4768716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4768717	0.87[EUR][1000 genomes]
rs4768718	0.87[EUR][1000 genomes]
rs4768719	0.91[EUR][1000 genomes]
rs4768724	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768725	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768727	0.94[MEX][hapmap];0.85[AMR][1000 genomes]
rs4768728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768730	0.94[MEX][hapmap];0.85[AMR][1000 genomes]
rs6582636	0.89[JPT][hapmap]
rs6582641	0.83[EUR][1000 genomes]
rs6582643	0.82[EUR][1000 genomes]
rs6582645	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6582646	0.88[EUR][1000 genomes]
rs6582657	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6582658	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6582659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6582660	0.85[AMR][1000 genomes]
rs6582661	0.85[AMR][1000 genomes]
rs6582663	0.85[AMR][1000 genomes]
rs7134289	0.91[EUR][1000 genomes]
rs7311504	0.87[EUR][1000 genomes]
rs7312259	0.85[EUR][1000 genomes]
rs7316127	0.84[MEX][hapmap]
rs7485580	0.87[EUR][1000 genomes]
rs7485599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7486495	0.87[EUR][1000 genomes]
rs7486532	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7486580	0.87[EUR][1000 genomes]
rs7486915	0.85[AMR][1000 genomes]
rs7487877	0.85[EUR][1000 genomes]
rs7488144	0.85[AMR][1000 genomes]
rs7488450	0.88[EUR][1000 genomes]
rs7488577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7489242	0.88[EUR][1000 genomes]
rs7954645	0.85[AMR][1000 genomes]
rs7956314	0.85[AMR][1000 genomes]
rs7959731	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7960808	0.85[AMR][1000 genomes]
rs7964767	0.85[AMR][1000 genomes]
rs7968897	0.88[EUR][1000 genomes]
rs7976280	0.83[TSI][hapmap]
rs7980455	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7980775	0.85[MEX][hapmap]
rs9669404	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs9706162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9706460	0.84[AMR][1000 genomes]
rs9706520	0.85[AMR][1000 genomes]
rs9971879	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4768723	LALBA	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:46834400-46846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:46840800-46847000	Enhancers	HUVEC	blood vessel
5	chr12:46843000-46846200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:46843200-46850600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:46843800-46846400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:46843800-46846400	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:46843800-46848000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:46843800-46850400	Enhancers	HMEC	breast
11	chr12:46843800-46850800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:46844000-46847600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:46844200-46848000	Enhancers	HSMM	muscle
14	chr12:46844200-46849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:46844400-46847600	Enhancers	K562	blood
16	chr12:46844400-46848600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:46844400-46848600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:46844400-46848600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:46844400-46848600	Weak transcription	Placenta	Placenta
20	chr12:46844400-46848600	Weak transcription	Gastric	stomach
21	chr12:46844400-46849600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:46844400-46849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:46844400-46849800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:46844400-46853200	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:46844600-46846000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:46844600-46846000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:46844600-46846000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:46844600-46846000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:46844600-46846000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:46844600-46846000	Weak transcription	Psoas Muscle	Psoas
31	chr12:46844600-46846000	Weak transcription	A549	lung
32	chr12:46844600-46846200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:46844600-46846200	Weak transcription	Esophagus	oesophagus
34	chr12:46844600-46846200	Weak transcription	Ovary	ovary
35	chr12:46844600-46846200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:46844600-46846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:46844600-46846800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:46844600-46846800	Weak transcription	Pancreas	Pancrea
39	chr12:46844600-46847000	Weak transcription	HSMMtube	muscle
40	chr12:46844600-46848000	Enhancers	Hela-S3	cervix
41	chr12:46844600-46848400	Weak transcription	Dnd41	blood
42	chr12:46844600-46848600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:46844600-46848600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:46844600-46848600	Weak transcription	Fetal Thymus	thymus
45	chr12:46844600-46848800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:46844600-46849600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:46844600-46849600	Weak transcription	Fetal Lung	lung
48	chr12:46844600-46849800	Weak transcription	Adipose Nuclei	Adipose
49	chr12:46844600-46849800	Weak transcription	Fetal Stomach	stomach
50	chr12:46844600-46849800	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links