Variant report

Variant	rs10783377
Chromosome Location	chr12:50983046-50983047
allele	A/C
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:
2	chr12:50981889..50983503-chr12:51007729..51009929,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10747586	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783367	0.82[EUR][1000 genomes]
rs10783380	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876041	0.82[EUR][1000 genomes]
rs10876044	0.82[EUR][1000 genomes]
rs10876046	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109726	1.00[ASN][1000 genomes]
rs11609231	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609941	1.00[ASN][1000 genomes]
rs11611288	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614911	0.81[EUR][1000 genomes]
rs11832315	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821270	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250751	1.00[ASN][1000 genomes]
rs2250752	1.00[ASN][1000 genomes]
rs2251024	1.00[ASN][1000 genomes]
rs2251603	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252589	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2554862	1.00[ASN][1000 genomes]
rs2684889	1.00[ASN][1000 genomes]
rs2684898	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684900	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684901	1.00[ASN][1000 genomes]
rs2700479	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700480	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700482	1.00[ASN][1000 genomes]
rs2700485	1.00[ASN][1000 genomes]
rs2731434	1.00[ASN][1000 genomes]
rs2731439	1.00[ASN][1000 genomes]
rs2731440	1.00[ASN][1000 genomes]
rs2731442	1.00[ASN][1000 genomes]
rs2731443	1.00[ASN][1000 genomes]
rs4768885	0.84[EUR][1000 genomes]
rs4768886	0.84[EUR][1000 genomes]
rs55939211	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089074	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104942	0.88[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	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644594	0.82[AMR][1000 genomes];0.92[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	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67934435	1.00[ASN][1000 genomes]
rs68171620	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131795	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300979	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305655	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307788	1.00[ASN][1000 genomes]
rs7307815	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960015	1.00[ASN][1000 genomes]
rs7968440	1.00[ASN][1000 genomes]
rs7976942	1.00[ASN][1000 genomes]
rs7977064	1.00[ASN][1000 genomes]
rs7977690	1.00[ASN][1000 genomes]
rs7978559	1.00[ASN][1000 genomes]
rs7979165	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10783377	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
4	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:50969400-50983400	Weak transcription	NHLF	lung
9	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
10	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:50973400-50983200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:50973800-50983200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:50973800-50983200	Weak transcription	HUVEC	blood vessel
16	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:50974600-50984000	Weak transcription	Psoas Muscle	Psoas
18	chr12:50975600-50983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:50975600-50983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:50975600-50991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:50975800-50983200	Weak transcription	HMEC	breast
22	chr12:50975800-50983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:50975800-50989400	Weak transcription	HepG2	liver
24	chr12:50975800-50990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:50975800-50991400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:50976000-50983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:50976000-50983200	Weak transcription	Osteobl	bone
28	chr12:50976000-50983400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:50976000-50993400	Weak transcription	Fetal Lung	lung
30	chr12:50976200-50983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:50976200-50991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:50976800-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:50977000-50983400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:50977200-50983400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:50977200-50983400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:50977400-50983200	Weak transcription	Thymus	Thymus
37	chr12:50977800-50989400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:50977800-50990400	Weak transcription	Left Ventricle	heart
39	chr12:50978000-50991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:50979200-50983200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:50979200-50989200	Weak transcription	Brain Anterior Caudate	brain
42	chr12:50979200-50991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
44	chr12:50979400-50983200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:50979400-50983200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:50979400-50991200	Weak transcription	Right Ventricle	heart
47	chr12:50979400-50991600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:50979400-50997200	Weak transcription	Pancreas	Pancrea
49	chr12:50979400-50997200	Weak transcription	Spleen	Spleen
50	chr12:50979600-50983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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