Variant report

Variant	rs2051434
Chromosome Location	chr11:86211187-86211188
allele	A/G
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	TEAD4	chr11:86210648-86211295	MCF-7	breast:	n/a	n/a
2	GATA3	chr11:86210660-86211215	MCF-7	breast:	n/a	chr11:86211076-86211087
3	GATA3	chr11:86209757-86211580	MCF-7	breast:	n/a	chr11:86211076-86211087
4	TCF12	chr11:86210469-86211386	A549	lung:	n/a	n/a
5	RAD21	chr11:86210739-86211515	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr11:86210520-86211360	MCF-7	breast:	n/a	n/a
7	GATA3	chr11:86210293-86211466	MCF-7	breast:	n/a	chr11:86211076-86211087
8	CEBPB	chr11:86210613-86211285	MCF-7	breast:	n/a	n/a
9	GATA1	chr11:86210553-86212449	PBDE	blood:	n/a	chr11:86211076-86211087 chr11:86210640-86210651
10	EP300	chr11:86210601-86211361	MCF-7	breast:	n/a	chr11:86210640-86210654
11	RAD21	chr11:86210697-86211252	MCF-7	breast:	n/a	n/a
12	SP1	chr11:86210575-86211306	A549	lung:	n/a	n/a
13	TEAD4	chr11:86210763-86211266	MCF-7	breast:	n/a	n/a
14	FOXM1	chr11:86210575-86211429	MCF-7	breast:	n/a	n/a
15	MAX	chr11:86210756-86211356	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr11:86210647-86211272	MCF-7	breast:	n/a	n/a
17	HDAC2	chr11:86210557-86211291	MCF-7	breast:	n/a	n/a
18	EGR1	chr11:86210591-86211187	MCF-7	breast:	n/a	n/a
19	GATA3	chr11:86210445-86211378	A549	lung:	n/a	chr11:86211076-86211087
20	FOXM1	chr11:86210632-86211296	MCF-7	breast:	n/a	n/a
21	CEBPB	chr11:86210753-86211644	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr11:86210750-86211259	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:86210623-86211287	MCF-7	breast:	n/a	n/a
24	ZNF217	chr11:86210624-86211357	MCF-7	breast:	n/a	n/a
25	EP300	chr11:86210584-86211365	MCF-7	breast:	n/a	chr11:86210640-86210654
26	GATA3	chr11:86210551-86211266	A549	lung:	n/a	chr11:86211076-86211087
27	JUND	chr11:86210603-86211280	MCF-7	breast:	n/a	chr11:86210654-86210666
28	FOXA2	chr11:86210749-86211211	A549	lung:	n/a	n/a
29	MAX	chr11:86210625-86211594	MCF-7	breast:	n/a	n/a
30	GATA3	chr11:86210481-86211487	MCF-7	breast:	n/a	chr11:86211076-86211087
31	TCF7L2	chr11:86210705-86211241	MCF-7	breast:	n/a	n/a
32	NR2F2	chr11:86210536-86211504	MCF-7	breast:	n/a	n/a
33	HA-E2F1	chr11:86210551-86211506	MCF-7	breast:	n/a	chr11:86211107-86211114 chr11:86211107-86211118 chr11:86211107-86211118 chr11:86211107-86211118
34	TCF12	chr11:86210486-86211334	MCF-7	breast:	n/a	n/a
35	RCOR1	chr11:86210557-86211439	Hela-S3	cervix:	n/a	n/a
36	MAX	chr11:86210521-86211232	MCF-7	breast:	n/a	n/a
37	HDAC2	chr11:86210587-86211303	MCF-7	breast:	n/a	n/a
38	SMC3	chr11:86210723-86211410	Hela-S3	cervix:	n/a	n/a
39	SIN3AK20	chr11:86210358-86211643	MCF-7	breast:	n/a	n/a
40	TCF12	chr11:86210517-86211490	MCF-7	breast:	n/a	n/a
41	NR2F2	chr11:86210513-86211418	MCF-7	breast:	n/a	n/a
42	SIN3AK20	chr11:86210452-86211443	MCF-7	breast:	n/a	n/a
43	FOSL2	chr11:86210594-86211287	MCF-7	breast:	n/a	chr11:86210654-86210666

No.	Distal block	Cell Line	Cell type
1	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
2	chr11:86210575..86211339-chr11:86487321..86487822,2	MCF-7	breast:
3	chr11:86210655..86211227-chr11:86501040..86502001,2	MCF-7	breast:
4	chr11:86210913..86213504-chr11:86383764..86386048,2	MCF-7	breast:
5	chr11:86210673..86211238-chr11:86487133..86487844,2	MCF-7	breast:
6	chr11:86209967..86211893-chr11:86216678..86219275,2	K562	blood:
7	chr11:86209651..86211899-chr11:86233390..86235647,2	MCF-7	breast:
8	chr11:86209598..86213474-chr11:86222640..86227259,4	K562	blood:
9	chr11:86209247..86211333-chr11:86213787..86215304,2	K562	blood:
10	chr11:86209488..86213127-chr11:86228780..86231761,3	K562	blood:

Variant related genes	Relation type
ME3	TF binding region
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1042780	0.83[CEU][hapmap]
rs10898485	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11234665	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234689	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11602862	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11606745	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs12222272	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819227	0.86[CEU][hapmap]
rs58410116	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72953621	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2051434	PRSS23	cis	cerebellum	SCAN
rs2051434	PRSS23	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
9	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
10	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
12	chr11:86206800-86214200	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:86206800-86214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:86206800-86214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:86207000-86213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:86208600-86211600	Strong transcription	Brain Anterior Caudate	brain
17	chr11:86209000-86214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:86209000-86214400	Weak transcription	HUVEC	blood vessel
19	chr11:86209200-86211200	Weak transcription	Right Atrium	heart
20	chr11:86209200-86211800	Weak transcription	Fetal Brain Female	brain
21	chr11:86209200-86213000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:86209200-86213200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:86209200-86213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:86209200-86213400	Weak transcription	Adipose Nuclei	Adipose
25	chr11:86209200-86213800	Weak transcription	Ovary	ovary
26	chr11:86209200-86213800	Weak transcription	Spleen	Spleen
27	chr11:86209200-86214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:86209200-86214400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:86209200-86214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:86209200-86214600	Weak transcription	Osteobl	bone
31	chr11:86209200-86214800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:86209200-86215000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:86209200-86216600	Weak transcription	Fetal Stomach	stomach
34	chr11:86209200-86218800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:86209200-86219600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:86209200-86221200	Weak transcription	NH-A	brain
37	chr11:86209200-86223600	Weak transcription	Brain Angular Gyrus	brain
38	chr11:86209200-86226600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:86209400-86213200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:86209400-86213600	Weak transcription	Aorta	Aorta
41	chr11:86209400-86214400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:86209400-86215000	Weak transcription	HSMMtube	muscle
43	chr11:86209400-86219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:86209400-86220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:86209400-86221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:86209400-86221600	Weak transcription	HSMM	muscle
47	chr11:86209600-86218400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:86209600-86221800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:86209800-86213600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:86209800-86218200	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links