Variant report

Variant	rs4077708
Chromosome Location	chr12:46857373-46857374
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46856551..46858642-chr12:46884704..46886633,2	MCF-7	breast:
2	chr12:46852729..46855589-chr12:46856810..46858940,4	MCF-7	breast:
3	chr12:46854831..46858483-chr12:46859173..46862265,4	MCF-7	breast:
4	chr12:46851276..46855951-chr12:46856514..46861457,9	K562	blood:
5	chr12:46764825..46767515-chr12:46854638..46860372,7	MCF-7	breast:
6	chr12:46848665..46851619-chr12:46853781..46857683,5	MCF-7	breast:
7	chr12:46763112..46768883-chr12:46857331..46862698,8	K562	blood:
8	chr12:46852229..46855814-chr12:46857217..46861777,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.93[MKK][hapmap];1.00[TSI][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];0.93[MKK][hapmap];1.00[TSI][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];0.91[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];0.83[EUR][1000 genomes]
rs11837427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[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[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];0.85[EUR][1000 genomes]
rs1472179	0.86[EUR][1000 genomes]
rs1492895	0.86[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];0.87[EUR][1000 genomes]
rs2220727	0.86[EUR][1000 genomes]
rs2252238	0.93[CHD][hapmap];1.00[LWK][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]
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[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]
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[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];0.87[EUR][1000 genomes]
rs4768717	0.87[EUR][1000 genomes]
rs4768718	0.87[EUR][1000 genomes]
rs4768719	0.91[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];1.00[EUR][1000 genomes];0.88[ASN][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];0.95[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	0.83[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];0.95[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];0.92[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];0.95[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];0.86[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];0.86[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
rs4077708	LALBA	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:46850000-46860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:46850600-46859200	Weak transcription	Stomach Mucosa	stomach
5	chr12:46853200-46867400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:46853600-46857600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:46853800-46858600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:46853800-46862600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:46854000-46858400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:46854200-46860800	Weak transcription	HUVEC	blood vessel
11	chr12:46854600-46857600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:46854600-46857600	Enhancers	NHEK	skin
13	chr12:46854800-46859200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:46854800-46864000	Weak transcription	Spleen	Spleen
15	chr12:46854800-46866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:46855000-46857400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:46855000-46859200	Weak transcription	Liver	Liver
18	chr12:46855000-46860200	Weak transcription	GM12878-XiMat	blood
19	chr12:46855000-46863800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:46855200-46857800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:46855400-46858800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:46855400-46863600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:46855400-46863800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:46855600-46859000	Weak transcription	HepG2	liver
25	chr12:46855600-46859200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:46855600-46859200	Weak transcription	K562	blood
27	chr12:46855600-46863400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:46855800-46857400	Enhancers	Fetal Muscle Leg	muscle
29	chr12:46855800-46864000	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:46856000-46857400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:46856000-46859200	Weak transcription	Fetal Intestine Small	intestine
32	chr12:46856000-46864000	Weak transcription	Right Ventricle	heart
33	chr12:46856000-46864800	Weak transcription	Small Intestine	intestine
34	chr12:46856000-46867800	Weak transcription	Aorta	Aorta
35	chr12:46856200-46859800	Weak transcription	Psoas Muscle	Psoas
36	chr12:46856200-46862000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:46856200-46866000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:46856200-46866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:46856200-46868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:46856600-46857800	Enhancers	Ovary	ovary
41	chr12:46856600-46867400	Weak transcription	Placenta	Placenta
42	chr12:46856800-46857400	Enhancers	Fetal Stomach	stomach
43	chr12:46856800-46857400	Enhancers	Right Atrium	heart
44	chr12:46857000-46860200	Weak transcription	Left Ventricle	heart
45	chr12:46857000-46864000	Weak transcription	NHDF-Ad	bronchial
46	chr12:46857200-46857400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:46857200-46861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:46857200-46861400	Weak transcription	Fetal Heart	heart

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