Variant report

Variant	rs4768123
Chromosome Location	chr12:46852093-46852094
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46760174..46765075-chr12:46847808..46852227,4	MCF-7	breast:
2	chr12:46850397..46853199-chr12:46885229..46888347,3	MCF-7	breast:
3	chr12:46835571..46842966-chr12:46847412..46853177,10	MCF-7	breast:
4	chr12:46850488..46852109-chr12:46868187..46870215,2	MCF-7	breast:
5	chr12:46851276..46855951-chr12:46856514..46861457,9	K562	blood:
6	chr12:46850217..46852233-chr12:46852801..46856137,3	K562	blood:
7	chr12:46774616..46780320-chr12:46848133..46852233,6	MCF-7	breast:
8	chr12:46765219..46768267-chr12:46847099..46854235,10	MCF-7	breast:
9	chr12:46764240..46766112-chr12:46849339..46852278,2	K562	blood:
10	chr12:46846174..46847804-chr12:46851109..46853712,2	K562	blood:
11	chr12:46850310..46852807-chr12:46885920..46888687,3	MCF-7	breast:

No data

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

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10748448	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs10748450	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10785627	0.86[EUR][1000 genomes]
rs10785628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785629	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880947	0.84[MEX][hapmap]
rs10880967	0.85[EUR][1000 genomes]
rs10880968	0.85[EUR][1000 genomes]
rs10880969	0.85[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs10880970	0.86[EUR][1000 genomes]
rs10880971	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880973	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[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];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11183479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11183483	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11183484	0.89[EUR][1000 genomes]
rs11183486	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11183488	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183502	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11183503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183504	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183521	1.00[LWK][hapmap]
rs1125909	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11837427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12099669	0.83[EUR][1000 genomes]
rs12298616	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12313929	0.85[AMR][1000 genomes]
rs12314541	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12319162	0.90[EUR][1000 genomes]
rs12813763	0.89[MEX][hapmap];0.82[TSI][hapmap]
rs12822345	0.84[EUR][1000 genomes]
rs12824565	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12827740	0.90[AMR][1000 genomes]
rs12832777	0.87[EUR][1000 genomes]
rs1472178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1472179	0.85[EUR][1000 genomes]
rs1492895	0.85[EUR][1000 genomes]
rs1667	1.00[LWK][hapmap]
rs2045556	0.86[CHB][hapmap]
rs2131371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2220727	0.85[EUR][1000 genomes]
rs2252238	0.93[CHD][hapmap];1.00[LWK][hapmap]
rs2408498	0.85[EUR][1000 genomes]
rs2897951	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3925101	0.85[AMR][1000 genomes]
rs3936214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4072304	0.87[EUR][1000 genomes]
rs4076247	0.84[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];0.97[EUR][1000 genomes]
rs4077708	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4427617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4768118	0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4768119	0.85[EUR][1000 genomes]
rs4768122	0.87[EUR][1000 genomes]
rs4768699	0.82[CEU][hapmap];0.89[GIH][hapmap]
rs4768709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4768710	0.85[EUR][1000 genomes]
rs4768712	0.85[EUR][1000 genomes]
rs4768713	0.86[EUR][1000 genomes]
rs4768714	0.86[EUR][1000 genomes]
rs4768716	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs4768717	0.86[EUR][1000 genomes]
rs4768718	0.86[EUR][1000 genomes]
rs4768719	0.90[EUR][1000 genomes]
rs4768723	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]
rs4768724	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768725	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[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];0.95[ASN][1000 genomes]
rs4768729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768730	0.94[MEX][hapmap];0.85[AMR][1000 genomes]
rs6582636	0.89[JPT][hapmap]
rs6582641	0.82[EUR][1000 genomes]
rs6582643	0.81[EUR][1000 genomes]
rs6582645	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6582646	0.87[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];0.98[EUR][1000 genomes]
rs6582658	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6582659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6582660	0.85[AMR][1000 genomes]
rs6582661	0.85[AMR][1000 genomes]
rs6582663	0.85[AMR][1000 genomes]
rs7134289	0.90[EUR][1000 genomes]
rs7311504	0.86[EUR][1000 genomes]
rs7312259	0.84[EUR][1000 genomes]
rs7316127	0.84[MEX][hapmap]
rs7485580	0.86[EUR][1000 genomes]
rs7485599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7486495	0.86[EUR][1000 genomes]
rs7486532	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7486580	0.86[EUR][1000 genomes]
rs7486915	0.85[AMR][1000 genomes]
rs7487877	0.84[EUR][1000 genomes]
rs7488144	0.85[AMR][1000 genomes]
rs7488450	0.87[EUR][1000 genomes]
rs7488577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7489242	0.87[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];0.90[EUR][1000 genomes]
rs7960808	0.85[AMR][1000 genomes]
rs7964767	0.85[AMR][1000 genomes]
rs7968897	0.87[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];0.95[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];0.85[EUR][1000 genomes]
rs9706162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[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];0.85[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
rs4768123	LALBA	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:46844400-46853200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:46844600-46852200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:46844600-46852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:46844600-46853000	Weak transcription	Brain Substantia Nigra	brain
6	chr12:46844600-46853200	Weak transcription	Left Ventricle	heart
7	chr12:46844600-46854000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:46844600-46854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:46844600-46854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:46844600-46855200	Weak transcription	Right Ventricle	heart
11	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:46844800-46853000	Weak transcription	Spleen	Spleen
14	chr12:46844800-46855200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:46845200-46852600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:46845400-46855600	Enhancers	HepG2	liver
17	chr12:46845600-46852400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:46847000-46852400	Weak transcription	HUVEC	blood vessel
19	chr12:46847800-46852200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:46847800-46853800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:46848400-46852200	Enhancers	Dnd41	blood
22	chr12:46848400-46853800	Enhancers	Primary T cells from cord blood	blood
23	chr12:46849200-46852200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:46849200-46852400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:46849600-46852400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:46849800-46854000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:46850000-46852400	Weak transcription	Fetal Thymus	thymus
28	chr12:46850000-46852400	Weak transcription	Thymus	Thymus
29	chr12:46850000-46852800	Enhancers	Primary B cells from cord blood	blood
30	chr12:46850000-46853800	Weak transcription	Fetal Heart	heart
31	chr12:46850000-46854000	Weak transcription	Gastric	stomach
32	chr12:46850000-46854600	Weak transcription	Psoas Muscle	Psoas
33	chr12:46850000-46860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:46850200-46852200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:46850200-46852200	Weak transcription	NH-A	brain
36	chr12:46850200-46852800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:46850200-46853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:46850200-46853400	Weak transcription	Right Atrium	heart
39	chr12:46850200-46853800	Weak transcription	Placenta	Placenta
40	chr12:46850200-46854400	Weak transcription	Small Intestine	intestine
41	chr12:46850200-46854800	Weak transcription	Fetal Kidney	kidney
42	chr12:46850200-46855200	Weak transcription	HSMMtube	muscle
43	chr12:46850400-46852200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:46850400-46852200	Weak transcription	GM12878-XiMat	blood
45	chr12:46850400-46852200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:46850400-46852400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:46850400-46852400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:46850400-46852400	Weak transcription	Osteobl	bone
49	chr12:46850400-46855200	Weak transcription	HSMM	muscle
50	chr12:46850400-46855800	Weak transcription	Fetal Muscle Leg	muscle

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