Variant report

Variant	rs12431846
Chromosome Location	chr14:69524883-69524884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69524611..69527139-chr14:69538352..69541318,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1007407	1.00[JPT][hapmap]
rs10083451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10130013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131077	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10132533	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10134578	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135102	0.85[AFR][1000 genomes]
rs10135127	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10135643	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135971	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139873	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141040	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10143302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10146649	0.94[EUR][1000 genomes]
rs10147119	0.85[AFR][1000 genomes]
rs10147369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148614	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151376	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158780	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158782	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158787	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11158792	0.85[AFR][1000 genomes]
rs11158795	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs11158798	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1147481	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11622889	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628126	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12323738	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12434775	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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437418	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586650	0.81[GIH][hapmap]
rs12587583	0.85[GIH][hapmap]
rs12589028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs1275415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12879406	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes]
rs12881049	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885977	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12886715	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12889849	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12891103	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12894822	0.85[GIH][hapmap]
rs1892296	0.93[EUR][1000 genomes]
rs1892297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1914004	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973677	0.82[EUR][1000 genomes]
rs2001998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2012764	1.00[JPT][hapmap]
rs2056153	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139540	0.85[AFR][1000 genomes]
rs2300875	1.00[JPT][hapmap]
rs2331918	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs2331919	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28613298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3211166	0.84[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap]
rs35538328	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4338726	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899280	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61980267	0.85[AFR][1000 genomes]
rs6573869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7144307	0.88[CEU][hapmap];0.89[GIH][hapmap]
rs7148045	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7160629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005658	0.81[AFR][1000 genomes]
rs8008184	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017103	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323522	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9323524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12431846	SPTB	cis	cerebellum	SCAN
rs12431846	ZBTB1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69517600-69528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:69518000-69533800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
5	chr14:69518800-69529200	Strong transcription	Fetal Brain Female	brain
6	chr14:69518800-69529200	Strong transcription	Fetal Stomach	stomach
7	chr14:69518800-69530000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr14:69518800-69530200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:69518800-69537000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:69519000-69525000	Strong transcription	Dnd41	blood
11	chr14:69519000-69537000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:69519000-69537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:69519200-69528600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:69519200-69531000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:69519200-69531600	Strong transcription	Fetal Thymus	thymus
16	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
17	chr14:69519400-69525200	Strong transcription	GM12878-XiMat	blood
18	chr14:69519400-69534200	Strong transcription	Primary B cells from cord blood	blood
19	chr14:69519600-69525000	Strong transcription	Fetal Lung	lung
20	chr14:69519600-69530800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:69519800-69526200	Weak transcription	Psoas Muscle	Psoas
23	chr14:69519800-69531000	Strong transcription	Fetal Intestine Large	intestine
24	chr14:69519800-69531600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:69520000-69525000	Strong transcription	Liver	Liver
26	chr14:69520000-69534800	Strong transcription	Placenta	Placenta
27	chr14:69520200-69525000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr14:69520200-69531600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:69520200-69531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:69520200-69532200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:69520600-69525000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:69521400-69526600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:69521400-69530200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:69521800-69528400	Weak transcription	Small Intestine	intestine
36	chr14:69522000-69528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:69522200-69525400	Weak transcription	Gastric	stomach
38	chr14:69522200-69528000	Weak transcription	Brain Substantia Nigra	brain
39	chr14:69522200-69528400	Weak transcription	Colonic Mucosa	Colon
40	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:69522400-69525000	Enhancers	HSMMtube	muscle
42	chr14:69522400-69525800	Weak transcription	Lung	lung
43	chr14:69522400-69526000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:69522400-69526200	Weak transcription	NHLF	lung
45	chr14:69522400-69528000	Weak transcription	Fetal Kidney	kidney
46	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:69522600-69526000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:69522600-69526000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:69522600-69526200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links