Variant report

Variant	rs11113003
Chromosome Location	chr12:106857979-106857980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10047654	0.88[ASN][1000 genomes]
rs10444532	0.88[EUR][1000 genomes]
rs10507211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10746059	0.91[ASN][1000 genomes]
rs10746060	0.88[ASN][1000 genomes]
rs10778464	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10778465	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778466	0.88[ASN][1000 genomes]
rs10778468	0.88[ASN][1000 genomes]
rs10778469	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778470	0.88[ASN][1000 genomes]
rs10778471	0.88[ASN][1000 genomes]
rs10778473	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778474	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778475	0.88[ASN][1000 genomes]
rs10778476	0.89[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]
rs10861577	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861578	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861579	0.80[EUR][1000 genomes]
rs10861580	0.80[ASN][1000 genomes]
rs10861581	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861582	0.91[ASN][1000 genomes]
rs10861583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861585	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10861586	0.91[ASN][1000 genomes]
rs10861587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10861588	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10861589	0.80[ASN][1000 genomes]
rs10861590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10861591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10861592	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10861593	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861594	0.88[ASN][1000 genomes]
rs10861595	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861597	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10861598	0.88[ASN][1000 genomes]
rs10861599	0.88[ASN][1000 genomes]
rs10861601	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10861604	0.88[ASN][1000 genomes]
rs10861605	1.00[ASN][1000 genomes]
rs10861608	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861609	0.88[ASN][1000 genomes]
rs10861613	0.85[ASN][1000 genomes]
rs11112933	1.00[CHB][hapmap]
rs11112940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11112943	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11112945	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11112949	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11112952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11112953	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112957	0.80[ASN][1000 genomes]
rs11112961	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112971	0.88[ASN][1000 genomes]
rs11112979	0.88[ASN][1000 genomes]
rs11112980	0.88[ASN][1000 genomes]
rs11112986	0.88[ASN][1000 genomes]
rs11112990	1.00[ASN][1000 genomes]
rs11112991	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112992	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112995	0.88[ASN][1000 genomes]
rs11113004	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113009	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11113024	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1134577	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11609315	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611176	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611252	0.88[ASN][1000 genomes]
rs11615682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11835357	0.88[ASN][1000 genomes]
rs11835362	1.00[ASN][1000 genomes]
rs12298876	0.88[ASN][1000 genomes]
rs12305705	0.88[ASN][1000 genomes]
rs12309708	0.88[ASN][1000 genomes]
rs12309758	0.88[ASN][1000 genomes]
rs12312915	0.88[ASN][1000 genomes]
rs12422988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12423068	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12425459	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038414	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17284674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17285274	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1921952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2243455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2374606	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374610	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2888888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2900499	0.87[EUR][1000 genomes]
rs2900500	0.87[EUR][1000 genomes]
rs34955444	0.91[ASN][1000 genomes]
rs3851631	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851632	0.88[ASN][1000 genomes]
rs3851633	0.88[ASN][1000 genomes]
rs4509864	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4625578	0.88[EUR][1000 genomes]
rs55678155	1.00[ASN][1000 genomes]
rs55689816	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60635749	0.88[ASN][1000 genomes]
rs61941917	0.88[ASN][1000 genomes]
rs61941918	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941920	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941922	0.88[ASN][1000 genomes]
rs61941943	1.00[ASN][1000 genomes]
rs61941944	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943670	0.81[EUR][1000 genomes]
rs61943672	0.91[ASN][1000 genomes]
rs61943690	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943693	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61943694	0.88[ASN][1000 genomes]
rs6539268	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	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132744	0.82[EUR][1000 genomes]
rs7132971	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7134615	0.88[ASN][1000 genomes]
rs7134881	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs7135054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7136098	0.96[ASN][1000 genomes]
rs7137445	0.88[ASN][1000 genomes]
rs7139139	0.88[ASN][1000 genomes]
rs7139249	0.88[ASN][1000 genomes]
rs7297873	0.88[ASN][1000 genomes]
rs7303873	0.88[ASN][1000 genomes]
rs7306012	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7306277	0.88[ASN][1000 genomes]
rs7306326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7308541	0.88[ASN][1000 genomes]
rs7309020	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310703	0.91[ASN][1000 genomes]
rs7311957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7315549	0.88[ASN][1000 genomes]
rs7961133	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7963213	0.88[ASN][1000 genomes]
rs7965520	0.88[ASN][1000 genomes]
rs7969743	0.88[ASN][1000 genomes]
rs7971581	0.81[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
rs11113003	POLR3B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106813000-106864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106813200-106864800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:106823200-106858000	Weak transcription	Psoas Muscle	Psoas
4	chr12:106824800-106866400	Weak transcription	NHLF	lung
5	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:106829000-106867200	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:106830400-106864600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:106830400-106865800	Weak transcription	K562	blood
9	chr12:106833000-106864400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:106840000-106864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:106841800-106865000	Weak transcription	A549	lung
12	chr12:106846400-106864000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:106846400-106864600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:106849000-106859400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:106849600-106859400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:106850400-106858200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:106851000-106864800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:106851400-106858400	Strong transcription	Liver	Liver
19	chr12:106851400-106858400	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:106851600-106860600	Weak transcription	HUVEC	blood vessel
21	chr12:106851800-106864600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:106852600-106867200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:106853200-106858400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:106853200-106858600	Enhancers	Fetal Heart	heart
25	chr12:106853200-106860800	Weak transcription	HMEC	breast
26	chr12:106853400-106865000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:106853400-106886400	Weak transcription	Fetal Kidney	kidney
28	chr12:106853600-106864000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:106853600-106864800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:106854000-106864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:106854000-106864600	Weak transcription	Brain Angular Gyrus	brain
32	chr12:106854000-106865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:106854200-106860200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:106854200-106864600	Weak transcription	Fetal Brain Female	brain
35	chr12:106854200-106886800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:106854400-106860600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:106854400-106863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:106854400-106864800	Weak transcription	Dnd41	blood
39	chr12:106854400-106865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:106854400-106865400	Weak transcription	Brain Substantia Nigra	brain
41	chr12:106854400-106874000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:106854400-106904800	Weak transcription	HSMM	muscle
43	chr12:106854600-106859600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:106854600-106872000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
46	chr12:106854800-106858200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:106854800-106859800	Weak transcription	NH-A	brain
48	chr12:106854800-106864800	Weak transcription	Fetal Lung	lung
49	chr12:106854800-106867000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:106854800-106874800	Weak transcription	HepG2	liver

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