Variant report

Variant	rs10840443
Chromosome Location	chr11:10613888-10613889
allele	G/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	STAT3	chr11:10613808-10614364	MCF10A-Er-Src	breast:	n/a	chr11:10614029-10614037
2	FOSL1	chr11:10613752-10614379	HCT-116	colon:	n/a	n/a
3	POLR2A	chr11:10613864-10614342	MCF10A-Er-Src	breast:	n/a	n/a
4	SP1	chr11:10613783-10614408	HCT-116	colon:	n/a	n/a
5	SRF	chr11:10613880-10614308	ECC-1	luminal epithelium:	n/a	chr11:10614105-10614118 chr11:10614104-10614119 chr11:10614103-10614117 chr11:10614102-10614116
6	SRF	chr11:10613728-10614372	HCT-116	colon:	n/a	chr11:10614105-10614118 chr11:10614104-10614119 chr11:10614103-10614117 chr11:10614102-10614116
7	CEBPB	chr11:10613873-10614320	MCF-7	breast:	n/a	n/a
8	TEAD4	chr11:10613803-10614208	ECC-1	luminal epithelium:	n/a	n/a
9	STAT3	chr11:10613858-10614312	MCF10A-Er-Src	breast:	n/a	chr11:10614029-10614037
10	SRF	chr11:10613759-10614262	MCF-7	breast:	n/a	chr11:10614105-10614118 chr11:10614104-10614119 chr11:10614103-10614117 chr11:10614102-10614116
11	CEBPB	chr11:10613844-10614211	MCF-7	breast:	n/a	chr11:10613864-10613876
12	EP300	chr11:10613883-10614231	SK-N-SH	brain:	n/a	n/a
13	FOS	chr11:10613872-10614263	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr11:10613694-10614378	HCT-116	colon:	n/a	chr11:10613864-10613876
15	SRF	chr11:10613806-10614367	MCF-7	breast:	n/a	chr11:10614105-10614118 chr11:10614104-10614119 chr11:10614103-10614117 chr11:10614102-10614116
16	CEBPB	chr11:10613883-10614288	IMR90	lung:	n/a	n/a
17	FOS	chr11:10613867-10614312	MCF10A-Er-Src	breast:	n/a	n/a
18	SP1	chr11:10613736-10614260	HCT-116	colon:	n/a	n/a
19	CEBPB	chr11:10613774-10614319	HCT-116	colon:	n/a	chr11:10613864-10613876
20	POLR2A	chr11:10613866-10614355	MCF10A-Er-Src	breast:	n/a	n/a
21	SRF	chr11:10613818-10614426	ECC-1	luminal epithelium:	n/a	chr11:10614105-10614118 chr11:10614104-10614119 chr11:10614103-10614117 chr11:10614102-10614116
22	JUND	chr11:10613801-10614239	HCT-116	colon:	n/a	n/a
23	FOSL2	chr11:10613782-10614233	SK-N-SH	brain:	n/a	n/a
24	CEBPB	chr11:10613865-10614226	ECC-1	luminal epithelium:	n/a	n/a
25	STAT3	chr11:10613846-10614270	MCF10A-Er-Src	breast:	n/a	chr11:10614029-10614037
26	FOS	chr11:10613859-10614311	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr11:10613875-10614221	MCF10A-Er-Src	breast:	n/a	n/a
28	SRF	chr11:10613649-10614497	HCT-116	colon:	n/a	chr11:10614105-10614118 chr11:10614104-10614119 chr11:10614103-10614117 chr11:10614102-10614116
29	GATA3	chr11:10613864-10614186	T-47D	breast:	n/a	n/a
30	FOS	chr11:10613859-10614355	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MRVI1-AS1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10219205	0.85[JPT][hapmap]
rs10219352	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1062912	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1065052	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10770126	0.85[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10840431	0.84[CEU][hapmap]
rs10840435	0.81[EUR][1000 genomes]
rs10840438	0.81[JPT][hapmap]
rs10840440	0.89[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840441	0.90[JPT][hapmap]
rs10840444	0.86[ASN][1000 genomes]
rs10840445	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840446	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840448	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042876	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042877	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042882	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042883	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11042893	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042894	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042895	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11042897	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042898	0.84[ASN][1000 genomes]
rs11827503	0.84[ASN][1000 genomes]
rs12280275	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12288969	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576545	0.84[ASN][1000 genomes]
rs12576547	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1531479	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16907989	0.86[JPT][hapmap]
rs1964537	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2054392	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2071018	0.84[CEU][hapmap]
rs2241489	0.82[ASN][1000 genomes]
rs2288236	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303402	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34466373	0.81[EUR][1000 genomes]
rs34988160	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3741033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741034	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs3741041	0.88[CEU][hapmap]
rs3741042	0.82[ASN][1000 genomes]
rs3781863	0.81[EUR][1000 genomes]
rs61892975	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114453	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7114603	0.81[ASN][1000 genomes]
rs7115310	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115735	0.88[ASN][1000 genomes]
rs7118551	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126245	0.85[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs724723	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358373	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746164	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs749045	0.86[ASN][1000 genomes]
rs881436	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs918981	0.81[ASN][1000 genomes]
rs964425	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs964426	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10840443	MRVI1	cis	uninvolved skin	skin_eQTL
rs10840443	MRVI1	cis	normal skin	skin_eQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:10592400-10622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:10595000-10629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:10595000-10632800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:10595400-10615400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:10597200-10625800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:10603600-10614800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:10603600-10614800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:10603600-10621800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:10605200-10620400	Weak transcription	Fetal Thymus	thymus
11	chr11:10605800-10614000	Weak transcription	Gastric	stomach
12	chr11:10605800-10622200	Weak transcription	Spleen	Spleen
13	chr11:10606000-10620400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:10607200-10616800	Enhancers	Placenta	Placenta
15	chr11:10607400-10626000	Weak transcription	Fetal Lung	lung
16	chr11:10608400-10616000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:10608800-10625400	Weak transcription	Adipose Nuclei	Adipose
18	chr11:10609400-10614800	Weak transcription	Ovary	ovary
19	chr11:10609600-10616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:10609600-10619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:10609600-10620800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:10610200-10614600	Weak transcription	Esophagus	oesophagus
23	chr11:10610200-10617000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:10610600-10615000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:10610800-10618800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:10611000-10616000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:10611200-10614200	Genic enhancers	Fetal Stomach	stomach
28	chr11:10611200-10615200	Enhancers	NHDF-Ad	bronchial
29	chr11:10611400-10615800	Weak transcription	K562	blood
30	chr11:10611600-10625000	Weak transcription	Brain Substantia Nigra	brain
31	chr11:10611800-10615000	Genic enhancers	NHLF	lung
32	chr11:10611800-10615200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:10612000-10615600	Enhancers	NHEK	skin
34	chr11:10612200-10614000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:10612200-10615000	Enhancers	Osteobl	bone
36	chr11:10612200-10615200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:10612400-10615200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:10612400-10616800	Enhancers	HMEC	breast
39	chr11:10612600-10616200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:10612800-10617400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:10613000-10614000	Enhancers	HSMMtube	muscle
42	chr11:10613000-10614800	Enhancers	HSMM	muscle
43	chr11:10613200-10614400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:10613200-10614600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:10613200-10614600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:10613200-10614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:10613200-10614800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:10613200-10615000	Enhancers	NH-A	brain
49	chr11:10613200-10615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:10613200-10616000	Genic enhancers	Stomach Smooth Muscle	stomach

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