Variant report

Variant	rs11539360
Chromosome Location	chr11:64880743-64880744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:64879916-64881465	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr11:64880620-64880770	HPF	lung:	n/a	n/a
3	TCF7L2	chr11:64880547-64881160	HCT-116	colon:	n/a	n/a
4	HEY1	chr11:64880002-64880762	K562	blood:	n/a	chr11:64880190-64880205
5	POLR2A	chr11:64878767-64881252	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:64878964-64881003	PFSK-1	brain:	n/a	n/a
7	EP300	chr11:64880548-64881594	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr11:64880700-64880850	GM12873	blood:	n/a	n/a
9	POLR2A	chr11:64878609-64881464	GM12892	blood:	n/a	n/a
10	CTCF	chr11:64880700-64880850	HMEC	breast:	n/a	n/a
11	SMC3	chr11:64880622-64880805	GM12878	blood:	n/a	n/a
12	CTCF	chr11:64880450-64880905	GM19238	blood:	n/a	n/a
13	POLR2A	chr11:64879949-64886482	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:64879154-64880889	GM12878	blood:	n/a	n/a
15	CTCF	chr11:64880660-64880810	AG10803	skin:	n/a	n/a
16	MXI1	chr11:64880670-64880874	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:64878976-64880982	H1-neurons	neurons:	n/a	n/a
18	CTCF	chr11:64880620-64880770	HCM	heart:	n/a	n/a
19	POLR2A	chr11:64876759-64881077	GM12892	blood:	n/a	n/a
20	CCNT2	chr11:64879099-64880744	K562	blood:	n/a	chr11:64879207-64879216 chr11:64879785-64879794 chr11:64880423-64880432
21	MAZ	chr11:64878698-64881515	IMR90	lung:	n/a	chr11:64881343-64881354 chr11:64879826-64879836 chr11:64880372-64880382
22	CTCF	chr11:64880511-64880881	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:64880700-64880850	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:64878449-64881062	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:64878789-64886874	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr11:64880592-64880805	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr11:64880680-64880830	GM12864	blood:	n/a	n/a
28	CTCF	chr11:64880643-64880837	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr11:64880660-64880810	GM12869	blood:	n/a	n/a
30	CTCF	chr11:64880660-64880810	GM12875	blood:	n/a	n/a
31	CTCF	chr11:64880652-64880829	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:64880680-64880830	AG10803	skin:	n/a	n/a
33	FOXM1	chr11:64879838-64880754	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:64879997-64880807	GM19099	blood:	n/a	n/a
35	MAZ	chr11:64879115-64880826	K562	blood:	n/a	chr11:64879826-64879836 chr11:64880372-64880382
36	POLR2A	chr11:64880077-64881084	HCT-116	colon:	n/a	n/a
37	ATF2	chr11:64880411-64880811	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:64878944-64880966	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr11:64878999-64880795	GM12878	blood:	n/a	n/a
40	CHD2	chr11:64879991-64880928	GM12878	blood:	n/a	n/a
41	PBX3	chr11:64879134-64880745	A549	lung:	n/a	chr11:64879267-64879276
42	POLR2A	chr11:64880569-64880830	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:64878686-64885755	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:64880150-64880999	GM12891	blood:	n/a	n/a
45	CTCF	chr11:64880680-64880816	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:64878686-64881679	GM12892	blood:	n/a	n/a
47	ZBTB7A	chr11:64879141-64881002	ECC-1	luminal epithelium:	n/a	chr11:64879457-64879466
48	CTCF	chr11:64880639-64880875	H1-hESC	embryonic stem cell:	n/a	n/a
49	TBP	chr11:64880703-64880852	HepG2	liver:	n/a	n/a
50	TAF1	chr11:64879097-64880958	H1-neurons	neurons:	n/a	n/a

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:121651912..121653793-chr11:64879174..64881362,2	MCF-7	breast:
2	chr11:64823856..64826495-chr11:64880495..64882277,2	K562	blood:
3	chr11:64880257..64882171-chr11:65269190..65271279,2	MCF-7	breast:
4	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
5	chr11:64544538..64546780-chr11:64879402..64882290,2	MCF-7	breast:
6	chr11:64627143..64628861-chr11:64879393..64881018,2	MCF-7	breast:
7	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
8	chr11:64552248..64555087-chr11:64879358..64881894,2	MCF-7	breast:
9	chr11:64807959..64809979-chr11:64878035..64880846,2	K562	blood:
10	chr11:64849359..64854600-chr11:64874292..64883144,16	MCF-7	breast:
11	chr11:64546052..64548172-chr11:64880141..64881711,2	MCF-7	breast:
12	chr11:64880606..64886969-chr11:64935331..64942091,20	K562	blood:
13	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
14	chr11:64643787..64646984-chr11:64875593..64882466,11	MCF-7	breast:
15	chr11:64622379..64623925-chr11:64879172..64881431,2	MCF-7	breast:
16	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
17	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
18	chr11:64013817..64015911-chr11:64878839..64880760,2	MCF-7	breast:
19	chr11:64684925..64687410-chr11:64879641..64882846,3	MCF-7	breast:
20	chr11:64878321..64880931-chr11:65028635..65030509,3	MCF-7	breast:
21	chr11:64849456..64854518-chr11:64877116..64882654,9	K562	blood:
22	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
23	chr11:64644806..64648507-chr11:64877927..64882201,4	MCF-7	breast:
24	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
25	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
26	chr11:64807050..64811411-chr11:64876533..64881108,6	MCF-7	breast:
27	chr11:64607104..64613028-chr11:64878466..64882720,9	MCF-7	breast:
28	chr11:64691560..64693195-chr11:64879142..64881140,2	K562	blood:
29	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
30	chr11:64879391..64881748-chr11:64974294..64977624,3	K562	blood:
31	chr11:64644520..64646761-chr11:64879281..64881959,2	K562	blood:
32	chr11:64544868..64546634-chr11:64879312..64880839,2	K562	blood:
33	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
34	chr11:64844843..64847340-chr11:64878794..64881424,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255173	TF binding region
ENSG00000254501	TF binding region
TM7SF2	TF binding region
ENSG00000269038	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000107651	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000197771	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000249251	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11227112	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11546366	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12099121	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12270532	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12281324	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12281698	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12286839	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12295393	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276021	0.86[EUR][1000 genomes]
rs61736623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105558	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105865	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	esv3410382	chr11:64878901-64881749	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	45 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	chr11:64878000-64881400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:64878800-64880800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:64878800-64880800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:64878800-64881000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:64878800-64881000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr11:64878800-64881200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:64878800-64881400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:64879000-64881000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:64879000-64881200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr11:64879000-64881200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:64879000-64881200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr11:64879000-64881400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:64879200-64880800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:64879200-64880800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:64879200-64880800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:64879200-64880800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:64879200-64880800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:64879200-64880800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:64879200-64881000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:64879200-64881000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr11:64879200-64881000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:64879200-64881000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:64879200-64881000	Active TSS	Brain Anterior Caudate	brain
24	chr11:64879200-64881000	Flanking Active TSS	Fetal Thymus	thymus
25	chr11:64879200-64881000	Flanking Active TSS	NHEK	skin
26	chr11:64879200-64881200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr11:64879200-64881200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:64879200-64881200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr11:64879200-64881200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:64879200-64881200	Active TSS	Fetal Kidney	kidney
31	chr11:64879400-64880800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:64879400-64880800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:64879400-64880800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:64879400-64880800	Active TSS	Fetal Heart	heart
35	chr11:64879400-64881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:64879400-64881000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr11:64879400-64881000	Flanking Active TSS	Colonic Mucosa	Colon
38	chr11:64879400-64881000	Flanking Active TSS	HMEC	breast
39	chr11:64879400-64881000	Flanking Active TSS	NH-A	brain
40	chr11:64879400-64881000	Flanking Active TSS	NHLF	lung
41	chr11:64879400-64881200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:64879400-64881200	Flanking Active TSS	Dnd41	blood
43	chr11:64879400-64881600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:64879600-64881000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:64879600-64881000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:64879600-64881200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:64879800-64881200	Enhancers	Fetal Brain Male	brain
48	chr11:64879800-64881200	Active TSS	Hela-S3	cervix
49	chr11:64880000-64880800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr11:64880000-64881000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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