Variant report

Variant	rs57162500
Chromosome Location	chr11:71606955-71606956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17161701	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276383	0.87[EUR][1000 genomes]
rs2276385	0.92[EUR][1000 genomes]
rs34075366	0.92[EUR][1000 genomes]
rs35501875	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35844388	0.87[EUR][1000 genomes]
rs3750913	0.87[EUR][1000 genomes]
rs3750914	1.00[EUR][1000 genomes]
rs3763797	1.00[EUR][1000 genomes]
rs55743841	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55815017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55938043	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55992367	0.87[EUR][1000 genomes]
rs57119231	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5743658	0.84[EUR][1000 genomes]
rs57637306	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60057760	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60165720	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60857568	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61745941	0.87[EUR][1000 genomes]
rs7111712	0.96[EUR][1000 genomes]
rs7113974	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72477716	0.92[EUR][1000 genomes]
rs73527732	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73540172	0.81[ASN][1000 genomes]
rs73544108	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9667883	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
11	nsv897905	chr11:71371354-71615727	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	esv1819073	chr11:71371742-71618164	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57162500	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71579800-71613800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr11:71580000-71614200	Weak transcription	Ovary	ovary
3	chr11:71580400-71607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:71580400-71616800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:71581200-71607000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:71581800-71615200	Weak transcription	Primary B cells from cord blood	blood
7	chr11:71586000-71623000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:71586800-71624000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:71587000-71618600	Weak transcription	Dnd41	blood
10	chr11:71587000-71621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:71587400-71627400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:71587600-71624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:71587800-71611400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:71588000-71622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:71588000-71623000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:71588400-71614200	Weak transcription	Left Ventricle	heart
17	chr11:71588600-71624800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:71589200-71622800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:71591400-71638200	Weak transcription	Right Ventricle	heart
20	chr11:71592200-71623200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:71598400-71607000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:71598400-71625000	Weak transcription	Brain Anterior Caudate	brain
23	chr11:71598600-71612200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:71599200-71614200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:71599600-71624000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:71599800-71622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:71600000-71635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:71600200-71624000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:71600200-71625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:71600800-71622800	Weak transcription	Gastric	stomach
31	chr11:71601000-71626600	Weak transcription	Pancreas	Pancrea
32	chr11:71602400-71622400	Weak transcription	Thymus	Thymus
33	chr11:71602600-71610000	Weak transcription	Aorta	Aorta
34	chr11:71603200-71612400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:71603600-71611800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:71604800-71615200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:71604800-71624200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:71604800-71626600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:71605000-71607000	Weak transcription	Fetal Stomach	stomach
40	chr11:71605200-71624800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:71605400-71607000	Weak transcription	Fetal Intestine Small	intestine
42	chr11:71605600-71615200	Weak transcription	Adipose Nuclei	Adipose
43	chr11:71605800-71614800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:71605800-71619600	Weak transcription	Primary T cells from cord blood	blood
45	chr11:71606000-71618400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:71606000-71626800	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:71606400-71607400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:71606400-71624800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:71606600-71612200	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:71606600-71638200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links