Variant report

Variant	rs17819134
Chromosome Location	chr11:86501339-86501340
allele	C/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	STAT3	chr11:86501331-86501808	Hela-S3	cervix:	n/a	chr11:86501423-86501435 chr11:86501540-86501547
2	EP300	chr11:86501112-86501806	A549	lung:	n/a	chr11:86501578-86501592
3	EP300	chr11:86501115-86501763	Hela-S3	cervix:	n/a	chr11:86501578-86501592
4	ZNF263	chr11:86501225-86502366	HEK293-T-REx	kidney:	n/a	n/a
5	FOSL2	chr11:86501111-86501785	A549	lung:	n/a	n/a
6	GATA3	chr11:86501071-86501815	MCF-7	breast:	n/a	n/a
7	RAD21	chr11:86501262-86501971	Hela-S3	cervix:	n/a	n/a
8	SP1	chr11:86501029-86501784	A549	lung:	n/a	n/a
9	REST	chr11:86501211-86501699	A549	lung:	n/a	n/a
10	CEBPB	chr11:86501272-86501775	Hela-S3	cervix:	n/a	n/a
11	TCF7L2	chr11:86501102-86501841	Hela-S3	cervix:	n/a	chr11:86501337-86501351 chr11:86501338-86501352
12	KAP1	chr11:86501150-86502218	HEK293	kidney:	n/a	n/a
13	BRCA1	chr11:86501292-86501668	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr11:86501081-86501806	SK-N-SH	brain:	n/a	n/a
15	GTF2F1	chr11:86501258-86501870	Hela-S3	cervix:	n/a	n/a
16	GATA3	chr11:86501143-86501703	SK-N-SH	brain:	n/a	n/a
17	MAX	chr11:86501294-86501901	Hela-S3	cervix:	n/a	n/a
18	NR2F2	chr11:86500950-86502720	MCF-7	breast:	n/a	n/a
19	EP300	chr11:86500889-86501913	A549	lung:	n/a	chr11:86501578-86501592
20	ZNF217	chr11:86501128-86501881	MCF-7	breast:	n/a	n/a
21	CEBPB	chr11:86501144-86501875	MCF-7	breast:	n/a	n/a
22	STAT1	chr11:86501170-86502105	Hela-S3	cervix:	n/a	chr11:86502040-86502047 chr11:86501423-86501435 chr11:86501540-86501547 chr11:86501631-86501642
23	TCF7L2	chr11:86500873-86502399	HEK293	kidney:	n/a	chr11:86501337-86501351 chr11:86501338-86501352 chr11:86502354-86502363
24	NR2F2	chr11:86501266-86501803	MCF-7	breast:	n/a	n/a
25	RFX5	chr11:86501308-86501751	Hela-S3	cervix:	n/a	chr11:86501563-86501576
26	TCF7L2	chr11:86501074-86501658	PANC-1	pancreas:	n/a	chr11:86501337-86501351 chr11:86501338-86501352
27	SP1	chr11:86500955-86501870	A549	lung:	n/a	n/a
28	FOXM1	chr11:86500908-86501928	MCF-7	breast:	n/a	n/a
29	GATA3	chr11:86500961-86501880	A549	lung:	n/a	n/a
30	TCF12	chr11:86500979-86501913	A549	lung:	n/a	n/a
31	TCF7L2	chr11:86501113-86501579	MCF-7	breast:	n/a	chr11:86501337-86501351 chr11:86501338-86501352
32	EP300	chr11:86500919-86501937	MCF-7	breast:	n/a	chr11:86501578-86501592
33	GATA3	chr11:86501248-86501714	MCF-7	breast:	n/a	n/a
34	GATA3	chr11:86501054-86501808	A549	lung:	n/a	n/a
35	GATA3	chr11:86500912-86501926	MCF-7	breast:	n/a	n/a
36	HDAC2	chr11:86501066-86501933	MCF-7	breast:	n/a	chr11:86501101-86501115
37	GATA3	chr11:86500983-86501882	MCF-7	breast:	n/a	n/a
38	TBP	chr11:86501259-86501907	Hela-S3	cervix:	n/a	n/a
39	SETDB1	chr11:86501239-86502016	U2OS	brain:	n/a	chr11:86501478-86501502
40	KAP1	chr11:86500523-86502151	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86486995..86487830-chr11:86500957..86501593,2	MCF-7	breast:
2	chr11:86486981..86487603-chr11:86501275..86501978,3	MCF-7	breast:
3	chr11:86210655..86211227-chr11:86501040..86502001,2	MCF-7	breast:

Variant related genes	Relation type
PRSS23	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10751141	0.82[CHB][hapmap]
rs11234809	0.86[ASN][1000 genomes]
rs11601553	0.86[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11602695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361769	0.84[ASN][1000 genomes]
rs12366016	0.84[ASN][1000 genomes]
rs12420039	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12421517	0.98[ASN][1000 genomes]
rs12421942	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12574979	0.83[ASN][1000 genomes]
rs12797648	0.83[ASN][1000 genomes]
rs12802848	0.82[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs12809023	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17211926	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs17212012	0.83[ASN][1000 genomes]
rs17819068	0.89[JPT][hapmap]
rs17819181	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs17819187	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1807014	0.82[ASN][1000 genomes]
rs1939110	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939111	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939112	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1939113	0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939114	0.91[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1939116	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1939117	0.85[ASN][1000 genomes]
rs1954769	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2155080	0.85[ASN][1000 genomes]
rs2155081	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2513018	0.81[CHB][hapmap]
rs35902217	0.85[ASN][1000 genomes]
rs36061072	0.85[ASN][1000 genomes]
rs3809048	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4128368	0.81[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4269941	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4291699	0.84[ASN][1000 genomes]
rs4304806	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4307743	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs4307748	0.84[ASN][1000 genomes]
rs4423210	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4485132	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4495915	0.84[ASN][1000 genomes]
rs4570601	0.82[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4944630	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs55646317	0.84[ASN][1000 genomes]
rs58976693	0.84[ASN][1000 genomes]
rs61707378	0.84[ASN][1000 genomes]
rs6592315	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6592317	0.81[CHB][hapmap]
rs7105467	0.82[ASN][1000 genomes]
rs7108490	0.84[ASN][1000 genomes]
rs7118751	0.81[ASN][1000 genomes]
rs7120185	0.85[ASN][1000 genomes]
rs7123349	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7126492	0.86[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs7131625	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs744292	0.84[ASN][1000 genomes]
rs7931274	0.82[ASN][1000 genomes]
rs7940201	0.88[ASN][1000 genomes]
rs7948063	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs7951582	0.82[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86487400-86501400	Weak transcription	Ovary	ovary
2	chr11:86493000-86502200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86495400-86510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:86496600-86501400	Weak transcription	Fetal Lung	lung
5	chr11:86496600-86502000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:86497000-86510000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:86497200-86501600	Weak transcription	HSMMtube	muscle
8	chr11:86499000-86502000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:86500000-86506400	Enhancers	Hela-S3	cervix
10	chr11:86500400-86502400	Enhancers	Fetal Intestine Large	intestine
11	chr11:86500600-86501400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:86500600-86501400	Enhancers	Fetal Intestine Small	intestine
13	chr11:86501000-86502200	Enhancers	A549	lung
14	chr11:86501000-86502600	Enhancers	Fetal Kidney	kidney
15	chr11:86501200-86502200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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