Variant report

Variant	rs539810
Chromosome Location	chr11:64216017-64216018
allele	C/T
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	RUNX3	chr11:64215516-64216049	GM12878	blood:	n/a	n/a
2	MTA3	chr11:64215446-64216544	GM12878	blood:	n/a	n/a
3	CTCF	chr11:64215960-64216110	GM12875	blood:	n/a	n/a
4	CTCF	chr11:64215980-64216130	HRPEpiC	eye:	n/a	n/a
5	MYC	chr11:64215514-64216647	NB4	blood:	n/a	chr11:64215915-64215925 chr11:64216487-64216497
6	SMC3	chr11:64215714-64216660	GM12878	blood:	n/a	chr11:64216456-64216470
7	MYC	chr11:64215908-64216038	MCF-7	breast:	n/a	chr11:64215915-64215925
8	MAX	chr11:64215549-64216659	NB4	blood:	n/a	chr11:64215915-64215925 chr11:64216487-64216497
9	CTCF	chr11:64215988-64217681	HCT-116	colon:	n/a	chr11:64216459-64216467 chr11:64216455-64216471 chr11:64216457-64216470 chr11:64216456-64216477 chr11:64216454-64216472
10	RAD21	chr11:64215531-64217509	SK-N-SH	brain:	n/a	chr11:64216456-64216470 chr11:64216526-64216539 chr11:64216457-64216464 chr11:64216549-64216561 chr11:64216455-64216474
11	CTCF	chr11:64215975-64216088	GM10266	blood:	n/a	n/a
12	SPI1	chr11:64215213-64216215	HL-60	blood:	n/a	n/a
13	CTCF	chr11:64215900-64216050	GM12869	blood:	n/a	n/a
14	MAX	chr11:64215896-64216606	Hela-S3	cervix:	n/a	chr11:64215915-64215925 chr11:64216487-64216497
15	CTCF	chr11:64216000-64216150	GM12871	blood:	n/a	n/a
16	BCLAF1	chr11:64215570-64216119	GM12878	blood:	n/a	chr11:64215823-64215832
17	RUNX3	chr11:64215347-64216233	GM12878	blood:	n/a	n/a
18	REST	chr11:64215275-64216659	HL-60	blood:	n/a	chr11:64216322-64216335
19	ZEB1	chr11:64215838-64216127	GM12878	blood:	n/a	n/a
20	IRF4	chr11:64215578-64216155	GM12878	blood:	n/a	chr11:64215762-64215776
21	IRF4	chr11:64215637-64216082	GM12878	blood:	n/a	chr11:64215762-64215776
22	TCF12	chr11:64215841-64216123	GM12878	blood:	n/a	n/a
23	STAT5A	chr11:64215610-64216630	GM12878	blood:	n/a	chr11:64216063-64216075 chr11:64216065-64216077 chr11:64216279-64216291 chr11:64215764-64215775
24	SP1	chr11:64215445-64216049	GM12878	blood:	n/a	chr11:64216000-64216014 chr11:64215999-64216011 chr11:64216001-64216010
25	CTCF	chr11:64215980-64216130	GM12874	blood:	n/a	n/a
26	POLR2A	chr11:64215197-64216780	HL-60	blood:	n/a	n/a
27	MAZ	chr11:64215822-64216027	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:64215285-64216707	HL-60	blood:	n/a	n/a
29	FOXA1	chr11:64215782-64216070	T-47D	breast:	n/a	n/a
30	MYC	chr11:64215916-64216042	MCF-7	breast:	n/a	n/a
31	IKZF1	chr11:64215462-64216083	GM12878	blood:	n/a	n/a
32	RAD21	chr11:64215998-64217527	HCT-116	colon:	n/a	chr11:64216456-64216470 chr11:64216526-64216539 chr11:64216457-64216464 chr11:64216549-64216561 chr11:64216455-64216474
33	CTCF	chr11:64215928-64216080	GM19238	blood:	n/a	n/a
34	TCF3	chr11:64215843-64216145	GM12878	blood:	n/a	n/a
35	CHD2	chr11:64215714-64216580	GM12878	blood:	n/a	n/a
36	SPI1	chr11:64215528-64216090	HL-60	blood:	n/a	n/a
37	POLR2A	chr11:64215839-64216030	GM12878	blood:	n/a	n/a
38	SPI1	chr11:64215555-64216047	GM12878	blood:	n/a	n/a
39	SPI1	chr11:64215537-64216056	GM12891	blood:	n/a	n/a
40	ZEB1	chr11:64215919-64216094	GM12878	blood:	n/a	n/a
41	CTCF	chr11:64215962-64216037	Fibrobl	skin:	n/a	n/a
42	SPI1	chr11:64215516-64216068	GM12891	blood:	n/a	n/a
43	CTCF	chr11:64215900-64216050	HPF	lung:	n/a	n/a
44	ATF2	chr11:64215551-64216060	GM12878	blood:	n/a	n/a
45	MAX	chr11:64215770-64216053	GM12878	blood:	n/a	chr11:64215915-64215925
46	SPI1	chr11:64215392-64216310	GM12878	blood:	n/a	n/a
47	SP1	chr11:64215443-64216061	GM12878	blood:	n/a	chr11:64216000-64216014 chr11:64215999-64216011 chr11:64216001-64216010
48	CTCF	chr11:64215960-64216110	GM12867	blood:	n/a	n/a
49	BHLHE40	chr11:64215708-64216095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64206783..64209244-chr11:64213873..64216195,3	K562	blood:
2	chr11:64125330..64128537-chr11:64215213..64218115,3	MCF-7	breast:
3	chr11:64215501..64216385-chr11:64257036..64257826,2	K562	blood:
4	chr11:64071995..64074529-chr11:64215478..64217997,2	K562	blood:
5	chr11:64109734..64110285-chr11:64215936..64216556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181908	TF binding region
ENSG00000168071	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000162302	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231802	1.00[EUR][1000 genomes]
rs12285139	1.00[EUR][1000 genomes]
rs12286249	0.82[ASN][1000 genomes]
rs12289479	1.00[EUR][1000 genomes]
rs473379	1.00[EUR][1000 genomes]
rs494998	1.00[EUR][1000 genomes]
rs59817450	0.82[ASN][1000 genomes]
rs60200610	0.82[ASN][1000 genomes]
rs60630604	0.82[ASN][1000 genomes]
rs61241209	1.00[EUR][1000 genomes]
rs7112596	1.00[EUR][1000 genomes]
rs73488236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64210600-64216200	Weak transcription	Right Atrium	heart
2	chr11:64215000-64218200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:64215200-64216200	Enhancers	Brain Angular Gyrus	brain
4	chr11:64215200-64216200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr11:64215200-64216400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:64215200-64216400	Bivalent Enhancer	NH-A	brain
7	chr11:64215200-64216800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:64215200-64216800	Active TSS	Aorta	Aorta
9	chr11:64215200-64217000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64215200-64217000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:64215200-64217200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:64215200-64217200	Flanking Active TSS	Liver	Liver
13	chr11:64215200-64217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:64215200-64217400	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:64215200-64217600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr11:64215200-64217600	Enhancers	Fetal Brain Male	brain
17	chr11:64215400-64216200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr11:64215400-64216200	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr11:64215400-64216200	Flanking Bivalent TSS/Enh	NHLF	lung
20	chr11:64215400-64216400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr11:64215400-64216400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr11:64215400-64217000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:64215400-64217200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr11:64215400-64217200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:64215400-64217200	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr11:64215400-64217200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:64215400-64217200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:64215400-64217200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:64215400-64217200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:64215400-64217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:64215400-64217400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:64215600-64216200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr11:64215600-64216200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr11:64215600-64216200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:64215600-64216200	Enhancers	Primary T cells from cord blood	blood
36	chr11:64215600-64216200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr11:64215600-64216200	Flanking Active TSS	HSMM	muscle
38	chr11:64215600-64216200	Flanking Active TSS	HSMMtube	muscle
39	chr11:64215600-64216200	Flanking Bivalent TSS/Enh	Osteobl	bone
40	chr11:64215600-64216400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr11:64215600-64216400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:64215600-64216400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:64215600-64216600	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr11:64215600-64216600	Bivalent Enhancer	HepG2	liver
45	chr11:64215600-64217000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr11:64215600-64217000	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:64215600-64217200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:64215600-64217200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:64215600-64217200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:64215600-64217200	Flanking Active TSS	Hela-S3	cervix

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