Variant report

Variant	rs10747586
Chromosome Location	chr12:50983565-50983566
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	chr12:50977912..50980011-chr12:50981947..50983773,4	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10783366	0.92[CEU][hapmap]
rs10783367	0.84[EUR][1000 genomes]
rs10783377	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783380	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10876044	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10876046	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609506	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11609941	1.00[ASN][1000 genomes]
rs11611288	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614911	0.84[EUR][1000 genomes]
rs11832315	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]
rs12821270	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1521516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap]
rs2250751	1.00[ASN][1000 genomes]
rs2250752	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	1.00[ASN][1000 genomes]
rs2251603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554862	1.00[ASN][1000 genomes]
rs2684889	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684898	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684900	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700485	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768885	0.87[EUR][1000 genomes]
rs4768886	0.87[EUR][1000 genomes]
rs55939211	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089074	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57602501	1.00[ASN][1000 genomes]
rs57729468	1.00[ASN][1000 genomes]
rs6580769	1.00[ASN][1000 genomes]
rs66597435	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66838741	1.00[ASN][1000 genomes]
rs66947035	1.00[ASN][1000 genomes]
rs67356137	1.00[ASN][1000 genomes]
rs67701624	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67934435	1.00[ASN][1000 genomes]
rs68171620	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305655	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	1.00[ASN][1000 genomes]
rs7307815	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957060	0.81[EUR][1000 genomes]
rs7960015	1.00[ASN][1000 genomes]
rs7968440	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7976942	1.00[ASN][1000 genomes]
rs7977064	1.00[ASN][1000 genomes]
rs7977690	1.00[ASN][1000 genomes]
rs7977742	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap]
rs7978559	1.00[ASN][1000 genomes]
rs7979165	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs829112	1.00[ASN][1000 genomes]
rs829114	1.00[ASN][1000 genomes]
rs829115	1.00[ASN][1000 genomes]
rs865489	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	nsv558850	chr12:50973897-50983771	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10747586	CERS5	cis	Nerve Tibial	GTEx
rs10747586	LASS5	cis	multi-tissue	Pritchard

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
3	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:50974600-50984000	Weak transcription	Psoas Muscle	Psoas
10	chr12:50975600-50991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:50975800-50989400	Weak transcription	HepG2	liver
12	chr12:50975800-50990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:50975800-50991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:50976000-50993400	Weak transcription	Fetal Lung	lung
15	chr12:50976200-50991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:50977800-50989400	Weak transcription	Brain Angular Gyrus	brain
17	chr12:50977800-50990400	Weak transcription	Left Ventricle	heart
18	chr12:50978000-50991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:50979200-50989200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:50979200-50991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
22	chr12:50979400-50991200	Weak transcription	Right Ventricle	heart
23	chr12:50979400-50991600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:50979400-50997200	Weak transcription	Pancreas	Pancrea
25	chr12:50979400-50997200	Weak transcription	Spleen	Spleen
26	chr12:50979600-50988800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:50979600-50991400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:50979800-50991000	Weak transcription	A549	lung
29	chr12:50980000-50989600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:50980000-50991200	Weak transcription	Primary B cells from cord blood	blood
31	chr12:50980400-50988800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:50981200-50986600	Weak transcription	Brain Substantia Nigra	brain
33	chr12:50981200-50989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:50981400-50991200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:50981400-50997400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:50981800-50991200	Weak transcription	Liver	Liver
37	chr12:50982000-50984000	Enhancers	Fetal Muscle Leg	muscle
38	chr12:50982200-50984600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:50982600-50987800	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:50983000-50983800	Enhancers	GM12878-XiMat	blood
41	chr12:50983000-50984000	Enhancers	Primary T cells from cord blood	blood
42	chr12:50983000-50984000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:50983000-50984200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:50983000-50984200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:50983000-50984200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:50983000-50984200	Enhancers	NHEK	skin
47	chr12:50983000-50984400	Enhancers	Placenta	Placenta
48	chr12:50983000-50984400	Enhancers	Fetal Thymus	thymus
49	chr12:50983200-50983600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr12:50983200-50983600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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