Variant report

Variant	rs551115
Chromosome Location	chr11:65480791-65480792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 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	chr11:65479125-65480836	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:65478963-65481591	U87	brain:	n/a	n/a
4	POLR2A	chr11:65479045-65481498	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:65478786-65480828	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:65480774-65481139	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:65479013-65481448	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:65480737-65481289	K562	blood:	n/a	n/a
9	POLR2A	chr11:65479241-65481375	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:65480759-65481022	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65479022-65481484	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:65480767-65480973	A549	lung:	n/a	n/a
13	POLR2A	chr11:65478995-65481591	U87	brain:	n/a	n/a
14	POLR2A	chr11:65480750-65480822	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:65480772-65481223	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:65479116-65481716	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:65479076-65481171	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:65479182-65481484	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:65478704-65481047	K562	blood:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:
2	chr11:65478750..65480920-chr11:65651843..65654065,2	MCF-7	breast:
3	chr10:3826069..3828511-chr11:65479385..65481818,2	MCF-7	breast:
4	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
5	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
6	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
7	chr11:65477979..65480813-chr11:65636240..65639820,3	K562	blood:
8	chr11:65430466..65432280-chr11:65478658..65481830,3	K562	blood:
9	chr11:65479281..65481159-chr11:65560377..65563374,2	K562	blood:
10	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
11	chr11:65477911..65483635-chr11:65545629..65549670,11	K562	blood:
12	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
13	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
14	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
15	chr11:65403669..65406096-chr11:65480097..65481780,2	MCF-7	breast:
16	chr11:65478312..65481456-chr11:65546233..65549223,4	MCF-7	breast:
17	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
18	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
19	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
20	chr11:65479277..65482595-chr11:65725720..65729556,3	MCF-7	breast:
21	chr11:65478230..65480937-chr11:65556981..65559484,3	MCF-7	breast:
22	chr11:65344842..65347495-chr11:65480705..65482591,2	K562	blood:
23	chr11:65379507..65381898-chr11:65478593..65480836,3	MCF-7	breast:
24	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:
25	chr11:65477805..65481127-chr11:65728001..65731482,4	MCF-7	breast:
26	chr11:65478425..65481343-chr11:65547533..65549097,2	MCF-7	breast:
27	chr11:65479410..65482518-chr11:65556440..65559162,4	MCF-7	breast:
28	chr11:65478490..65481819-chr11:65637441..65641209,4	K562	blood:
29	chr11:65478523..65481403-chr11:65546217..65549249,4	K562	blood:
30	chr11:65478433..65481069-chr11:65493417..65495213,3	K562	blood:
31	chr11:65478491..65482258-chr11:65493417..65497237,3	K562	blood:

No data

Variant related genes	Relation type
KAT5	TF binding region
ENSG00000254470	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000067082	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000214659	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1048924	1.00[EUR][1000 genomes]
rs1078458	1.00[EUR][1000 genomes]
rs10896054	1.00[EUR][1000 genomes]
rs1151504	1.00[EUR][1000 genomes]
rs1151520	1.00[EUR][1000 genomes]
rs1194099	1.00[EUR][1000 genomes]
rs12275175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs12721573	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs56990327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[EUR][1000 genomes]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[EUR][1000 genomes]
rs669300	1.00[EUR][1000 genomes]
rs7106444	1.00[EUR][1000 genomes]
rs7107453	0.83[AMR][1000 genomes]
rs7115662	1.00[EUR][1000 genomes]
rs7124858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72556578	1.00[EUR][1000 genomes]
rs73492420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934992	1.00[EUR][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	chr11:65478800-65480800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:65479600-65480800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
3	chr11:65480000-65480800	Flanking Active TSS	NH-A	brain
4	chr11:65480000-65487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:65480200-65480800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65480200-65480800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:65480200-65480800	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr11:65480200-65480800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr11:65480200-65480800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
10	chr11:65480200-65480800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:65480200-65480800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr11:65480200-65480800	Enhancers	Spleen	Spleen
13	chr11:65480200-65480800	Flanking Active TSS	GM12878-XiMat	blood
14	chr11:65480200-65480800	Flanking Active TSS	Hela-S3	cervix
15	chr11:65480200-65480800	Transcr. at gene 5' and 3'	NHEK	skin
16	chr11:65480200-65481000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:65480200-65481000	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr11:65480200-65481200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr11:65480200-65481400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:65480400-65480800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:65480400-65480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:65480400-65480800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:65480400-65480800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:65480400-65480800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:65480400-65480800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:65480400-65480800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:65480400-65480800	Weak transcription	Aorta	Aorta
28	chr11:65480400-65480800	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
29	chr11:65480400-65480800	Weak transcription	Ovary	ovary
30	chr11:65480400-65480800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
31	chr11:65480400-65480800	Flanking Active TSS	HepG2	liver
32	chr11:65480400-65480800	Transcr. at gene 5' and 3'	HSMM	muscle
33	chr11:65480400-65481000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:65480400-65481000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65480400-65481000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:65480400-65481000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
37	chr11:65480400-65481000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
38	chr11:65480400-65481000	Genic enhancers	Stomach Mucosa	stomach
39	chr11:65480400-65481200	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr11:65480400-65481200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:65480400-65481400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:65480400-65481400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:65480400-65481400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:65480400-65481400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:65480600-65480800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:65480600-65480800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65480600-65480800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:65480600-65480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:65480600-65480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:65480600-65480800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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