Variant report

Variant	rs559588404
Chromosome Location	chr11:73018456-73018457
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	POLR2A	chr11:73018421-73018469	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr11:73018144-73018714	H1-hESC	embryonic stem cell:	n/a	chr11:73018483-73018502
3	CTCF	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
4	POLR2A	chr11:73018408-73018703	HCT-116	colon:	n/a	n/a
5	TEAD4	chr11:73017872-73019160	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr11:73018005-73019570	H1-hESC	embryonic stem cell:	n/a	chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
7	POLR2A	chr11:73018198-73020897	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:73018309-73018641	Medullo	brain:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
9	CHD2	chr11:73018125-73018637	HepG2	liver:	n/a	n/a
10	SMC3	chr11:73018138-73018711	HepG2	liver:	n/a	chr11:73018484-73018498
11	IRF1	chr11:73018367-73019226	K562	blood:	n/a	chr11:73018801-73018815 chr11:73018706-73018720
12	TCF7L2	chr11:73018360-73019013	HCT-116	colon:	n/a	n/a
13	POLR2A	chr11:73018323-73020776	HCT-116	colon:	n/a	n/a
14	CTCF	chr11:73018400-73018550	GM12869	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
15	PAX5	chr11:73018345-73018632	GM12878	blood:	n/a	n/a
16	CTCF	chr11:73018380-73018530	NHEK	skin:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
17	JUN	chr11:73018327-73018625	K562	blood:	n/a	n/a
18	PBX3	chr11:73017961-73019645	A549	lung:	n/a	n/a
19	YY1	chr11:73018335-73018592	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:73018350-73018650	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
21	BHLHE40	chr11:73018368-73018510	K562	blood:	n/a	n/a
22	CEBPB	chr11:73018263-73018592	K562	blood:	n/a	n/a
23	YY1	chr11:73018196-73018752	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOS	chr11:73018381-73018581	MCF10A-Er-Src	breast:	n/a	n/a
25	RXRA	chr11:73018381-73018581	GM12878	blood:	n/a	chr11:73018482-73018502
26	CTCF	chr11:73018380-73018530	HMF	breast:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
27	RAD21	chr11:73018156-73018776	ECC-1	luminal epithelium:	n/a	chr11:73018483-73018502
28	CTCF	chr11:73018304-73018662	Kidney_OC	kidney:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
29	NFIC	chr11:73017866-73020697	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr11:73018113-73018665	GM19240	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
31	CTCF	chr11:73018324-73018631	GM12878	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
32	CTCF	chr11:73018357-73018612	MCF-7	breast:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
33	POLR2A	chr11:73018315-73019974	GM19099	blood:	n/a	n/a
34	CTCF	chr11:73018354-73018619	Hela-S3	cervix:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
35	GABPA	chr11:73018308-73018639	H1-hESC	embryonic stem cell:	n/a	chr11:73018618-73018627
36	POLR2A	chr11:73018248-73018552	MCF10A-Er-Src	breast:	n/a	n/a
37	UBTF	chr11:73018373-73018639	K562	blood:	n/a	n/a
38	CTCF	chr11:73018420-73018570	AG04450	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
39	CTCF	chr11:73018360-73018510	GM12801	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
40	EBF1	chr11:73018362-73019676	GM12878	blood:	n/a	chr11:73019093-73019102 chr11:73019092-73019103 chr11:73019132-73019143
41	YY1	chr11:73018250-73018680	GM12892	blood:	n/a	n/a
42	MYC	chr11:73018316-73020687	Hela-S3	cervix:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
43	EP300	chr11:73018275-73018521	GM12878	blood:	n/a	n/a
44	TBL1XR1	chr11:73018392-73018554	K562	blood:	n/a	n/a
45	ELF1	chr11:73018401-73018640	K562	blood:	n/a	n/a
46	CTCF	chr11:73018400-73018550	HPF	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
47	CTCF	chr11:73018400-73018550	GM12866	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
48	CBX3	chr11:73018179-73018623	K562	blood:	n/a	n/a
49	ELF1	chr11:73018350-73018692	GM12878	blood:	n/a	n/a
50	CTCF	chr11:73018380-73018530	GM12875	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505

No.	Distal block	Cell Line	Cell type
1	chr11:73003630..73006401-chr11:73018287..73021432,3	MCF-7	breast:
2	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
3	chr11:73017966..73018926-chr11:73046011..73047270,11	MCF-7	breast:
4	chr11:72979299..72983458-chr11:73018365..73020880,3	MCF-7	breast:
5	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
6	chr11:73018081..73018732-chr11:73241033..73241875,2	K562	blood:
7	chr11:73017499..73019012-chr11:73106974..73109687,2	MCF-7	breast:
8	chr11:73017965..73019018-chr11:73046229..73047203,8	MCF-7	breast:
9	chr11:73018047..73019003-chr11:73104100..73105328,9	K562	blood:
10	chr11:73012187..73014199-chr11:73016875..73018746,2	K562	blood:
11	chr11:73018021..73018985-chr11:73071144..73072120,7	MCF-7	breast:
12	chr11:73018112..73018964-chr11:73045938..73047172,9	K562	blood:
13	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
14	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
15	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
16	chr11:73000300..73001112-chr11:73018427..73018969,2	K562	blood:
17	chr11:73018219..73018909-chr11:73071294..73072092,3	MCF-7	breast:
18	chr11:73006222..73006797-chr11:73018007..73018967,3	K562	blood:
19	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
20	chr11:73006231..73006757-chr11:73018027..73018977,2	MCF-7	breast:
21	chr11:73018036..73019056-chr11:73104373..73105309,6	MCF-7	breast:
22	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
23	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM168A-2	chr11:73018280-73018601	ENSG00000257038.1

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000256928	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3440775	chr11:73017529-73020077	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73017000-73018800	Enhancers	Spleen	Spleen
2	chr11:73017200-73018800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:73017600-73018600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:73017600-73018600	Enhancers	Gastric	stomach
5	chr11:73017800-73018600	Flanking Active TSS	NHEK	skin
6	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:73018000-73018600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:73018000-73018600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:73018000-73018600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr11:73018000-73018600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:73018000-73018600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:73018000-73018600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:73018000-73018600	Enhancers	Lung	lung
14	chr11:73018000-73018600	Flanking Active TSS	Dnd41	blood
15	chr11:73018000-73018600	Flanking Active TSS	Osteobl	bone
16	chr11:73018000-73018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:73018000-73018800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:73018000-73019000	Active TSS	Thymus	Thymus
19	chr11:73018000-73019400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr11:73018000-73019400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:73018000-73019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:73018000-73021000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:73018200-73018600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr11:73018200-73018600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr11:73018200-73018600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr11:73018200-73018600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:73018200-73018600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:73018200-73018600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr11:73018200-73018600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:73018200-73018600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:73018200-73018600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr11:73018200-73018600	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr11:73018200-73018600	Flanking Active TSS	Placenta	Placenta
34	chr11:73018200-73019600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:73018200-73019600	Active TSS	Psoas Muscle	Psoas
36	chr11:73018200-73019800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:73018200-73020200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:73018200-73020600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:73018200-73020800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:73018200-73020800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:73018200-73020800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:73018200-73020800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:73018200-73020800	Active TSS	Ovary	ovary
44	chr11:73018200-73021000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr11:73018200-73021000	Active TSS	Left Ventricle	heart
46	chr11:73018200-73022200	Active TSS	Aorta	Aorta
47	chr11:73018400-73018600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:73018400-73018600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr11:73018400-73018600	Enhancers	Fetal Brain Male	brain
50	chr11:73018400-73018600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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