Variant report

Variant	rs11113009
Chromosome Location	chr12:106873123-106873124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10047654	0.88[ASN][1000 genomes]
rs10444532	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10507211	0.91[ASN][1000 genomes]
rs10746059	0.91[ASN][1000 genomes]
rs10746060	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778465	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778466	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778468	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778469	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778470	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778471	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778473	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778474	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778475	0.88[ASN][1000 genomes]
rs10778476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778478	0.88[ASN][1000 genomes]
rs10778480	0.88[ASN][1000 genomes]
rs10778481	0.88[ASN][1000 genomes]
rs10778485	0.86[AMR][1000 genomes]
rs10861577	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861578	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861579	0.88[EUR][1000 genomes]
rs10861580	0.80[ASN][1000 genomes]
rs10861581	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861582	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861583	0.91[ASN][1000 genomes]
rs10861585	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861586	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861587	0.91[ASN][1000 genomes]
rs10861589	0.80[ASN][1000 genomes]
rs10861590	0.88[ASN][1000 genomes]
rs10861591	0.88[ASN][1000 genomes]
rs10861592	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861593	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861594	0.88[ASN][1000 genomes]
rs10861595	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861597	0.88[ASN][1000 genomes]
rs10861598	0.88[ASN][1000 genomes]
rs10861599	0.88[ASN][1000 genomes]
rs10861601	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861604	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861605	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861608	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861609	0.88[ASN][1000 genomes]
rs10861613	0.85[ASN][1000 genomes]
rs10861614	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112945	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112949	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112951	0.91[ASN][1000 genomes]
rs11112952	0.91[ASN][1000 genomes]
rs11112953	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112957	0.80[ASN][1000 genomes]
rs11112961	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112971	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112979	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112980	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112986	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112990	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112991	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112992	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112993	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11112995	0.88[ASN][1000 genomes]
rs11113003	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113004	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609315	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611176	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611252	0.88[ASN][1000 genomes]
rs11611815	0.80[EUR][1000 genomes]
rs11835357	0.88[ASN][1000 genomes]
rs11835362	1.00[ASN][1000 genomes]
rs12298876	0.88[ASN][1000 genomes]
rs12305705	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12309708	0.88[ASN][1000 genomes]
rs12309758	0.88[ASN][1000 genomes]
rs12312915	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12423068	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424952	0.84[ASN][1000 genomes]
rs12425459	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038414	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218490	0.84[ASN][1000 genomes]
rs17285274	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2141774	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2288268	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2374606	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374610	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28475238	0.85[AMR][1000 genomes]
rs2900499	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2900500	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34955444	0.91[ASN][1000 genomes]
rs3851631	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851632	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851633	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4509864	0.84[ASN][1000 genomes]
rs4522273	0.86[AMR][1000 genomes]
rs4625578	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55678155	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689816	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60635749	0.88[ASN][1000 genomes]
rs61941917	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941918	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941920	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941922	0.88[ASN][1000 genomes]
rs61941943	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941944	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943670	0.88[EUR][1000 genomes]
rs61943672	0.91[ASN][1000 genomes]
rs61943690	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943693	0.96[ASN][1000 genomes]
rs61943694	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6539268	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6539269	0.88[ASN][1000 genomes]
rs6539270	0.88[ASN][1000 genomes]
rs6539271	0.88[ASN][1000 genomes]
rs67911933	0.80[ASN][1000 genomes]
rs67966244	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132744	0.86[EUR][1000 genomes]
rs7134615	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7134881	0.95[ASN][1000 genomes]
rs7135054	0.91[ASN][1000 genomes]
rs7136098	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7137445	0.88[ASN][1000 genomes]
rs7139139	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7139249	0.88[ASN][1000 genomes]
rs7296090	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7297873	0.88[ASN][1000 genomes]
rs7298062	0.82[EUR][1000 genomes]
rs7303873	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306277	0.88[ASN][1000 genomes]
rs7306326	0.88[ASN][1000 genomes]
rs7307711	0.88[AMR][1000 genomes]
rs7308541	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7309020	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310703	0.91[ASN][1000 genomes]
rs7311957	0.80[ASN][1000 genomes]
rs7315549	0.88[ASN][1000 genomes]
rs7963213	0.88[ASN][1000 genomes]
rs7965520	0.88[ASN][1000 genomes]
rs7969743	0.88[ASN][1000 genomes]
rs7971581	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976305	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11113009	POLR3B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106853400-106886400	Weak transcription	Fetal Kidney	kidney
3	chr12:106854200-106886800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:106854400-106874000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:106854400-106904800	Weak transcription	HSMM	muscle
6	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
7	chr12:106854800-106874800	Weak transcription	HepG2	liver
8	chr12:106855800-106895600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:106855800-106896200	Weak transcription	Thymus	Thymus
10	chr12:106856000-106893000	Weak transcription	Right Ventricle	heart
11	chr12:106856800-106884000	Weak transcription	NHEK	skin
12	chr12:106856800-106889400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:106856800-106899400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:106857200-106890200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:106858600-106895400	Weak transcription	Fetal Heart	heart
16	chr12:106859200-106882800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:106865200-106874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:106865200-106881800	Weak transcription	Pancreas	Pancrea
19	chr12:106865200-106889800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:106865200-106890600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:106865200-106892400	Weak transcription	Aorta	Aorta
22	chr12:106865400-106873800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:106865400-106873800	Weak transcription	Left Ventricle	heart
24	chr12:106865400-106874000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:106865400-106879800	Weak transcription	Brain Germinal Matrix	brain
26	chr12:106865400-106887600	Weak transcription	Fetal Stomach	stomach
27	chr12:106865400-106888000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:106865400-106889200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:106865400-106889200	Weak transcription	Lung	lung
30	chr12:106865400-106889200	Weak transcription	Ovary	ovary
31	chr12:106865400-106889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:106865400-106889400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:106865400-106889800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:106865400-106889800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:106865400-106890400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:106865400-106890400	Weak transcription	Colonic Mucosa	Colon
37	chr12:106865400-106890400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:106865400-106891800	Weak transcription	Gastric	stomach
39	chr12:106865400-106893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:106865400-106895200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:106865400-106897800	Weak transcription	Spleen	Spleen
42	chr12:106865600-106873600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:106865600-106873600	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:106865600-106873800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:106865600-106873800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:106865600-106875000	Weak transcription	A549	lung
47	chr12:106865600-106876200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:106865600-106876400	Weak transcription	Liver	Liver
49	chr12:106865600-106878600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:106865600-106880200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links