Variant report

Variant	rs1546532
Chromosome Location	chr11:64884052-64884053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:64884012-64885667	HepG2	liver:	n/a	chr11:64885269-64885278
2	E2F6	chr11:64883750-64885555	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:64884048-64885688	HUVEC	blood vessel:	n/a	n/a
4	ELF1	chr11:64883998-64885513	GM12878	blood:	n/a	chr11:64885175-64885188 chr11:64885176-64885187 chr11:64885196-64885209 chr11:64885198-64885207 chr11:64885177-64885186 chr11:64885197-64885208
5	ELF1	chr11:64884032-64885673	MCF-7	breast:	n/a	chr11:64885175-64885188 chr11:64885176-64885187 chr11:64885196-64885209 chr11:64885198-64885207 chr11:64885177-64885186 chr11:64885197-64885208
6	POLR2A	chr11:64881621-64885776	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:64879949-64886482	MCF10A-Er-Src	breast:	n/a	n/a
8	TCF12	chr11:64883940-64885757	A549	lung:	n/a	n/a
9	POLR2A	chr11:64881694-64890247	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:64878789-64886874	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr11:64883888-64885627	K562	blood:	n/a	chr11:64885269-64885278
12	POLR2A	chr11:64883960-64885608	MCF-7	breast:	n/a	n/a
13	POLR2A	chr11:64881996-64885883	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:64883876-64885549	A549	lung:	n/a	n/a
15	POLR2A	chr11:64883534-64886531	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:64882063-64885673	IMR90	lung:	n/a	n/a
17	HCFC1	chr11:64882807-64885682	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr11:64883672-64885798	SK-N-SH	brain:	n/a	n/a
19	PAX5	chr11:64884046-64885448	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:64878686-64885755	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:64882084-64885696	GM12878	blood:	n/a	n/a
22	USF2	chr11:64883556-64885660	Hela-S3	cervix:	n/a	chr11:64885212-64885228
23	POLR2A	chr11:64883381-64886247	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr11:64883972-64885474	K562	blood:	n/a	n/a
25	POLR2A	chr11:64877568-64887885	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:64883964-64885801	GM18505	blood:	n/a	n/a
27	MTA3	chr11:64883433-64885739	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:64881378-64886742	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:64881632-64885818	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:64883987-64885735	ProgFib	skin:	n/a	n/a
31	POLR2A	chr11:64884017-64885834	HUVEC	blood vessel:	n/a	n/a
32	E2F6	chr11:64883940-64884590	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:64881239-64886927	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr11:64882118-64885676	GM12891	blood:	n/a	n/a
35	FOSL2	chr11:64883945-64885597	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr11:64884008-64885578	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:64881717-64885793	GM12892	blood:	n/a	n/a
38	E2F6	chr11:64883967-64884636	K562	blood:	n/a	n/a
39	POLR2A	chr11:64883845-64885974	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:64883067-64885727	PBDE	blood:	n/a	n/a
41	POLR2A	chr11:64881712-64885709	ECC-1	luminal epithelium:	n/a	n/a
42	PML	chr11:64883891-64885641	MCF-7	breast:	n/a	n/a
43	MXI1	chr11:64883407-64885625	IMR90	lung:	n/a	n/a
44	POLR2A	chr11:64881830-64888134	K562	blood:	n/a	n/a
45	E2F6	chr11:64884020-64884610	A549	lung:	n/a	n/a
46	POLR2A	chr11:64883483-64885905	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr11:64883369-64885827	HL-60	blood:	n/a	n/a
48	POLR2A	chr11:64883944-64885621	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr11:64883794-64885634	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:64883380-64885500	HCT-116	colon:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64883300..64885236-chr11:64972448..64974242,2	K562	blood:
2	chr11:64690573..64692350-chr11:64882127..64884352,3	K562	blood:
3	chr11:64536552..64539187-chr11:64882695..64885248,2	MCF-7	breast:
4	chr11:64779861..64784378-chr11:64881512..64885598,8	MCF-7	breast:
5	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
6	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
7	chr11:64569309..64573413-chr11:64882963..64885967,3	K562	blood:
8	chr11:64654425..64656235-chr11:64883004..64885352,2	K562	blood:
9	chr11:64568159..64573413-chr11:64882450..64885409,5	K562	blood:
10	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
11	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
12	chr11:64553028..64555577-chr11:64882403..64884702,2	MCF-7	breast:
13	chr11:64862526..64865749-chr11:64882167..64886670,6	K562	blood:
14	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
15	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
16	chr11:64643589..64645871-chr11:64883152..64885290,3	K562	blood:
17	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
18	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
19	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
20	chr11:64882671..64884203-chr11:65082144..65083671,2	K562	blood:
21	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
22	chr11:64881935..64884142-chr11:65015937..65018143,2	K562	blood:
23	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
24	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
25	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
26	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
27	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
28	chr11:62607346..62609197-chr11:64882535..64884835,2	MCF-7	breast:
29	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
30	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:
31	chr11:64849686..64855071-chr11:64883547..64886732,9	MCF-7	breast:
32	chr11:64883520..64885092-chr15:69744413..69746307,2	MCF-7	breast:
33	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
34	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
35	chr11:64883484..64885408-chr6:30582873..30584863,2	MCF-7	breast:
36	chr11:64883635..64887153-chr11:65027849..65031198,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255173	TF binding region
ENSG00000254501	TF binding region
ENSG00000137818	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088	0.89[ASN][1000 genomes]
rs1149569	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1149570	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1195975	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1195976	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1195977	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1195978	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196047	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196049	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1209621	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1211975	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1300836	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370165	0.90[ASN][1000 genomes]
rs3819049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850948	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3896078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs491465	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930699	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs508375	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527039	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531178	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939766	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907629	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64881000-64884200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:64881000-64884200	Weak transcription	Aorta	Aorta
3	chr11:64881000-64884200	Weak transcription	Right Atrium	heart
4	chr11:64881400-64884200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:64881400-64884200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:64882200-64886600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:64882400-64884200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:64882400-64884200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:64882600-64884200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:64882800-64884600	Enhancers	Fetal Brain Male	brain
11	chr11:64883000-64884200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:64883000-64884200	Genic enhancers	Fetal Muscle Leg	muscle
13	chr11:64883000-64884200	Genic enhancers	Fetal Thymus	thymus
14	chr11:64883000-64884200	Enhancers	Stomach Mucosa	stomach
15	chr11:64883200-64884200	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr11:64883200-64884200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:64883200-64884200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:64883200-64884200	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr11:64883200-64884200	Genic enhancers	Gastric	stomach
20	chr11:64883200-64884400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:64883400-64884200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:64883400-64884200	Enhancers	NHDF-Ad	bronchial
23	chr11:64883400-64884800	Enhancers	Fetal Heart	heart
24	chr11:64883400-64885600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
25	chr11:64883600-64884200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:64883600-64884200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:64883600-64884200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:64883600-64884200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
29	chr11:64883600-64884200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:64883600-64884200	Enhancers	Left Ventricle	heart
31	chr11:64883600-64884200	Enhancers	NH-A	brain
32	chr11:64883600-64884400	Enhancers	Primary B cells from cord blood	blood
33	chr11:64883600-64884400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:64883600-64884400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:64883600-64884400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr11:64883600-64884600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:64883600-64884600	Flanking Active TSS	HMEC	breast
38	chr11:64883600-64885200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:64883800-64884200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:64883800-64884200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:64883800-64884200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:64883800-64884200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:64883800-64884200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:64883800-64884200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
45	chr11:64883800-64884200	Weak transcription	Ovary	ovary
46	chr11:64883800-64884200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:64883800-64884200	Transcr. at gene 5' and 3'	Right Ventricle	heart
48	chr11:64883800-64884200	Flanking Active TSS	HSMMtube	muscle
49	chr11:64883800-64884200	Enhancers	HUVEC	blood vessel
50	chr11:64883800-64884400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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