Variant report

Variant	rs1151500
Chromosome Location	chr11:65481166-65481167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65479114-65482970	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65478963-65481591	U87	brain:	n/a	n/a
3	POLR2A	chr11:65480985-65481168	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65479045-65481498	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:65481077-65483114	K562	blood:	n/a	n/a
6	POLR2A	chr11:65479013-65481448	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:65480737-65481289	K562	blood:	n/a	n/a
8	POLR2A	chr11:65479241-65481375	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:65481150-65481377	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:65479022-65481484	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:65478995-65481591	U87	brain:	n/a	n/a
12	POLR2A	chr11:65480839-65481430	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:65480772-65481223	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:65479116-65481716	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:65479076-65481171	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:65479182-65481484	SK-N-MC	brain:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:
2	chr10:3826069..3828511-chr11:65479385..65481818,2	MCF-7	breast:
3	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
4	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
5	chr11:65418903..65421353-chr11:65481128..65482697,2	K562	blood:
6	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
7	chr11:65430466..65432280-chr11:65478658..65481830,3	K562	blood:
8	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
9	chr11:65477911..65483635-chr11:65545629..65549670,11	K562	blood:
10	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
11	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
12	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
13	chr11:65403669..65406096-chr11:65480097..65481780,2	MCF-7	breast:
14	chr11:65478312..65481456-chr11:65546233..65549223,4	MCF-7	breast:
15	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
16	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
17	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
18	chr11:65479277..65482595-chr11:65725720..65729556,3	MCF-7	breast:
19	chr11:65344842..65347495-chr11:65480705..65482591,2	K562	blood:
20	chr11:65478425..65481343-chr11:65547533..65549097,2	MCF-7	breast:
21	chr11:65479410..65482518-chr11:65556440..65559162,4	MCF-7	breast:
22	chr11:65478490..65481819-chr11:65637441..65641209,4	K562	blood:
23	chr11:65480803..65482959-chr11:65822015..65824523,2	MCF-7	breast:
24	chr11:65478523..65481403-chr11:65546217..65549249,4	K562	blood:
25	chr11:65478491..65482258-chr11:65493417..65497237,3	K562	blood:

No data

Variant related genes	Relation type
KAT5	TF binding region
ENSG00000255120	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000214659	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1108922	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1151501	0.83[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510030	0.85[EUR][1000 genomes]
rs3953806	0.86[CHB][hapmap]
rs480989	0.83[CEU][hapmap];0.84[GIH][hapmap]
rs487264	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488170	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930298	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs521678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs534414	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552312	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555903	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796623	0.84[EUR][1000 genomes]
rs563427	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565267	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593982	0.91[CEU][hapmap];0.84[GIH][hapmap]
rs603509	0.91[CEU][hapmap]
rs618456	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645621	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680948	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939198	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65480000-65487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65480200-65481200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:65480200-65481400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:65480400-65481200	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr11:65480400-65481200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:65480400-65481400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:65480400-65481400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:65480400-65481400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr11:65480400-65481400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:65480600-65481200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:65480600-65481200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
12	chr11:65480600-65481200	Enhancers	Fetal Brain Male	brain
13	chr11:65480600-65481200	Genic enhancers	Fetal Intestine Large	intestine
14	chr11:65480600-65481200	Genic enhancers	Fetal Lung	lung
15	chr11:65480600-65481200	Genic enhancers	Fetal Stomach	stomach
16	chr11:65480600-65481200	Genic enhancers	Right Ventricle	heart
17	chr11:65480600-65481400	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr11:65480600-65481400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:65480600-65481400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr11:65480600-65481400	Genic enhancers	Brain Hippocampus Middle	brain
21	chr11:65480600-65481400	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr11:65480600-65481400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr11:65480600-65481400	Genic enhancers	Pancreas	Pancrea
24	chr11:65480600-65481600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:65480600-65481600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:65480600-65481800	Weak transcription	HUVEC	blood vessel
27	chr11:65480600-65482000	Weak transcription	Fetal Heart	heart
28	chr11:65480600-65482000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:65480600-65482000	Weak transcription	HSMMtube	muscle
30	chr11:65480600-65482400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:65480600-65483000	Genic enhancers	Placenta	Placenta
32	chr11:65480600-65485200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65480600-65485800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:65480600-65486400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:65480600-65486600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:65480600-65486800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:65480600-65486800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:65480800-65481200	Genic enhancers	Primary T cells from cord blood	blood
39	chr11:65480800-65481200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:65480800-65481200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65480800-65481200	Genic enhancers	Brain Cingulate Gyrus	brain
42	chr11:65480800-65481200	Genic enhancers	Colonic Mucosa	Colon
43	chr11:65480800-65481200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:65480800-65481400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:65480800-65481400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:65480800-65481400	Genic enhancers	Brain Germinal Matrix	brain
47	chr11:65480800-65481400	Genic enhancers	Fetal Intestine Small	intestine
48	chr11:65480800-65481800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:65480800-65482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:65480800-65482200	Weak transcription	Small Intestine	intestine

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