Variant report

Variant	rs11711421
Chromosome Location	chr3:52561779-52561780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52557221-52564466	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:52560672-52562460	K562	blood:	n/a	n/a
3	POLR2A	chr3:52557107-52565043	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr3:52560598-52572342	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:52561583-52561992	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:52560795-52562782	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr3:52557044-52564804	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52552118..52554542-chr3:52561235..52564270,3	MCF-7	breast:

Variant related genes	Relation type
NT5DC2	TF binding region
ENSG00000010327	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10510760	0.95[JPT][hapmap]
rs10865973	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs10865974	0.95[JPT][hapmap]
rs1108842	0.87[JPT][hapmap]
rs11130310	0.86[JPT][hapmap]
rs11130312	0.95[JPT][hapmap]
rs11130315	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs11130317	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs11177	0.91[JPT][hapmap]
rs1133415	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709284	0.85[ASN][1000 genomes]
rs11714419	0.95[JPT][hapmap]
rs11714565	0.95[JPT][hapmap]
rs11716747	0.95[JPT][hapmap]
rs11720159	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs11720243	0.95[JPT][hapmap]
rs12487445	0.95[JPT][hapmap]
rs12487591	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs12488461	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12489732	0.88[ASN][1000 genomes]
rs12489828	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12496634	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs12635140	0.95[JPT][hapmap]
rs13059862	0.87[ASN][1000 genomes]
rs13060048	0.87[ASN][1000 genomes]
rs13063160	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs13064064	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs13068293	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs13076398	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13079063	0.90[JPT][hapmap]
rs13083798	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs13085775	0.87[JPT][hapmap]
rs13085895	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs13303	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs13621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1561337	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs1570	0.89[ASN][1000 genomes]
rs17052256	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs17052259	0.80[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs17264436	0.95[JPT][hapmap]
rs1821879	0.85[ASN][1000 genomes]
rs1866268	0.95[JPT][hapmap]
rs1961958	0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1961959	0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2015971	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2028216	0.95[JPT][hapmap]
rs2083180	0.95[JPT][hapmap]
rs2118540	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2164884	0.95[JPT][hapmap]
rs2164885	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2251219	0.80[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276824	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs2289247	0.95[JPT][hapmap]
rs2289249	0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2289250	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs2336146	0.95[JPT][hapmap]
rs2336149	0.95[JPT][hapmap]
rs2577831	0.87[JPT][hapmap]
rs2590838	0.87[JPT][hapmap]
rs28661185	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2878628	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs33964154	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33967311	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs34005367	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34017441	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs35526119	0.95[JPT][hapmap]
rs3733039	0.95[JPT][hapmap]
rs3733041	0.95[JPT][hapmap]
rs3733045	0.95[JPT][hapmap]
rs3755798	0.95[JPT][hapmap]
rs3755806	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs3774365	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs3774366	0.95[JPT][hapmap]
rs3796353	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3852066	0.95[JPT][hapmap]
rs4234633	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4282054	0.83[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4434138	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4475032	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4687548	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4687624	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4687625	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4687626	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4687629	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4687638	0.95[JPT][hapmap]
rs62256903	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6445528	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6445534	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs6617	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs6762813	0.95[JPT][hapmap]
rs6778735	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6778844	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6786043	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6786919	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs6788887	0.87[ASN][1000 genomes]
rs6788993	0.87[ASN][1000 genomes]
rs6798246	0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6804145	0.95[JPT][hapmap]
rs6805156	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs6976	0.95[JPT][hapmap]
rs7611731	0.95[JPT][hapmap]
rs7614981	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7622694	0.95[JPT][hapmap]
rs7624716	0.95[JPT][hapmap]
rs7636227	0.83[ASN][1000 genomes]
rs7638808	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7652191	0.95[JPT][hapmap]
rs8906	0.95[JPT][hapmap]
rs9758945	0.83[ASN][1000 genomes]
rs9879090	0.83[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv590305	chr3:52535586-52569480	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv590307	chr3:52540773-52572056	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv876795	chr3:52544470-52572056	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv876796	chr3:52549676-52572056	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11711421	PBRM1	cis	Thyroid	GTEx
rs11711421	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL
rs11711421	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs11711421	MUSTN1	cis	Artery Aorta	GTEx
rs11711421	NT5DC2	cis	multi-tissue	Pritchard
rs11711421	GLT8D1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52533600-52566000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:52535400-52562200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:52535600-52562600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr3:52536600-52564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:52550600-52566600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:52552800-52562000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:52552800-52565400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:52552800-52566000	Weak transcription	Stomach Mucosa	stomach
9	chr3:52552800-52566200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:52553800-52562000	Weak transcription	K562	blood
11	chr3:52554200-52566000	Weak transcription	HSMM	muscle
12	chr3:52554800-52567200	Weak transcription	Aorta	Aorta
13	chr3:52555400-52565200	Strong transcription	Fetal Intestine Small	intestine
14	chr3:52555800-52565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:52556000-52563600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:52556000-52566000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:52556200-52563800	Strong transcription	Fetal Brain Female	brain
18	chr3:52556200-52564000	Strong transcription	Brain Germinal Matrix	brain
19	chr3:52556200-52565200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:52556400-52563600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:52556600-52564200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:52556800-52564200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:52556800-52566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:52557000-52563800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:52557000-52565800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:52557200-52563400	Genic enhancers	Right Ventricle	heart
27	chr3:52557200-52563800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:52557400-52563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:52557400-52563400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:52557400-52563400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:52557400-52564600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:52557400-52564600	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr3:52557400-52565000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:52557400-52565800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:52557600-52563400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr3:52557600-52563400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:52557800-52563200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:52557800-52563600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:52558000-52563400	Strong transcription	Osteobl	bone
40	chr3:52558200-52563200	Strong transcription	NH-A	brain
41	chr3:52558200-52563600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:52558200-52566200	Genic enhancers	Fetal Lung	lung
43	chr3:52558400-52562400	Genic enhancers	Placenta	Placenta
44	chr3:52558400-52563400	Strong transcription	A549	lung
45	chr3:52558400-52566200	Weak transcription	Fetal Kidney	kidney
46	chr3:52558400-52566200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr3:52558400-52567000	Weak transcription	Small Intestine	intestine
48	chr3:52558600-52562000	Genic enhancers	NHLF	lung
49	chr3:52558600-52566200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:52558600-52566600	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links