Variant report

Variant	rs11832315
Chromosome Location	chr12:50943932-50943933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50937236..50940218-chr12:50942824..50944458,2	K562	blood:
2	chr12:50941295..50944235-chr12:50949790..50952600,2	MCF-7	breast:
3	chr12:50938363..50942077-chr12:50942741..50946423,3	MCF-7	breast:
4	chr12:50943053..50945273-chr12:51008692..51011511,2	K562	blood:
5	chr12:50942199..50944039-chr12:50952576..50955094,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10747586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783366	0.89[CEU][hapmap]
rs10783367	0.85[EUR][1000 genomes]
rs10783377	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783380	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10876044	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10876046	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609506	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11609941	1.00[ASN][1000 genomes]
rs11611288	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614911	0.85[EUR][1000 genomes]
rs12821270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap]
rs2250751	1.00[ASN][1000 genomes]
rs2250752	1.00[ASN][1000 genomes]
rs2251024	1.00[ASN][1000 genomes]
rs2251603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684889	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684898	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684900	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700485	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs2731434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs2731439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2731440	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731442	1.00[CEU][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs4768885	0.88[EUR][1000 genomes]
rs4768886	0.88[EUR][1000 genomes]
rs55939211	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602501	1.00[ASN][1000 genomes]
rs57729468	1.00[ASN][1000 genomes]
rs66597435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66947035	1.00[ASN][1000 genomes]
rs67356137	1.00[ASN][1000 genomes]
rs67701624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs68171620	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305655	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	1.00[ASN][1000 genomes]
rs7307815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957060	0.82[EUR][1000 genomes]
rs7960015	1.00[ASN][1000 genomes]
rs7968440	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs7977690	1.00[ASN][1000 genomes]
rs7977742	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs7978559	1.00[ASN][1000 genomes]
rs7979165	1.00[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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11832315	KIAA1463	cis	multi-tissue	Pritchard
rs11832315	CERS5	cis	Nerve Tibial	GTEx
rs11832315	LASS5	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
3	chr12:50927400-50944400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:50927400-50948800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:50927400-50951000	Weak transcription	Dnd41	blood
6	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:50927600-50950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
9	chr12:50927800-50947600	Weak transcription	Fetal Thymus	thymus
10	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:50930600-50948600	Weak transcription	Left Ventricle	heart
12	chr12:50932000-50945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:50932200-50948400	Weak transcription	Primary T cells from cord blood	blood
16	chr12:50932200-50948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
18	chr12:50932400-50944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:50932400-50949000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:50932800-50947600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:50932800-50948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:50933000-50952400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:50935800-50944600	Weak transcription	Esophagus	oesophagus
24	chr12:50935800-50948400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:50937000-50945400	Weak transcription	GM12878-XiMat	blood
27	chr12:50937800-50944000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:50938000-50951200	Weak transcription	Fetal Stomach	stomach
29	chr12:50938800-50945600	Enhancers	Liver	Liver
30	chr12:50939000-50944200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:50939200-50944800	Enhancers	Fetal Intestine Small	intestine
32	chr12:50939600-50945000	Enhancers	Fetal Intestine Large	intestine
33	chr12:50939800-50944600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:50940000-50944400	Weak transcription	Ovary	ovary
35	chr12:50940000-50951000	Weak transcription	NHLF	lung
36	chr12:50940000-50956400	Weak transcription	Psoas Muscle	Psoas
37	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:50940200-50947000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:50940600-50944400	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:50940600-50945400	Weak transcription	HMEC	breast
42	chr12:50940600-50946600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:50940600-50947000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:50940600-50947000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:50940600-50947000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:50940600-50949400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:50940600-50955200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:50940800-50944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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