Variant report

Variant	rs112115903
Chromosome Location	chr11:73018628-73018629
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	RAD21	chr11:73018144-73018714	H1-hESC	embryonic stem cell:	n/a	chr11:73018483-73018502
2	CTCF	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
3	POLR2A	chr11:73018408-73018703	HCT-116	colon:	n/a	n/a
4	TEAD4	chr11:73017872-73019160	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr11:73018005-73019570	H1-hESC	embryonic stem cell:	n/a	chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
6	POLR2A	chr11:73018198-73020897	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:73018309-73018641	Medullo	brain:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
8	CHD2	chr11:73018125-73018637	HepG2	liver:	n/a	n/a
9	SMC3	chr11:73018138-73018711	HepG2	liver:	n/a	chr11:73018484-73018498
10	IRF1	chr11:73018367-73019226	K562	blood:	n/a	chr11:73018801-73018815 chr11:73018706-73018720
11	TCF7L2	chr11:73018360-73019013	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:73018323-73020776	HCT-116	colon:	n/a	n/a
13	PAX5	chr11:73018345-73018632	GM12878	blood:	n/a	n/a
14	PBX3	chr11:73017961-73019645	A549	lung:	n/a	n/a
15	CTCF	chr11:73018350-73018650	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
16	YY1	chr11:73018196-73018752	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr11:73018156-73018776	ECC-1	luminal epithelium:	n/a	chr11:73018483-73018502
18	CTCF	chr11:73018304-73018662	Kidney_OC	kidney:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
19	NFIC	chr11:73017866-73020697	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr11:73018113-73018665	GM19240	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
21	POLR2A	chr11:73018530-73019992	GM12892	blood:	n/a	n/a
22	CTCF	chr11:73018324-73018631	GM12878	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
23	POLR2A	chr11:73018315-73019974	GM19099	blood:	n/a	n/a
24	GABPA	chr11:73018308-73018639	H1-hESC	embryonic stem cell:	n/a	chr11:73018618-73018627
25	UBTF	chr11:73018373-73018639	K562	blood:	n/a	n/a
26	EBF1	chr11:73018362-73019676	GM12878	blood:	n/a	chr11:73019093-73019102 chr11:73019092-73019103 chr11:73019132-73019143
27	YY1	chr11:73018250-73018680	GM12892	blood:	n/a	n/a
28	MYC	chr11:73018316-73020687	Hela-S3	cervix:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
29	ELF1	chr11:73018401-73018640	K562	blood:	n/a	n/a
30	ELF1	chr11:73018350-73018692	GM12878	blood:	n/a	n/a
31	MYC	chr11:73018536-73019251	MCF-7	breast:	n/a	chr11:73019218-73019225
32	TCF12	chr11:73018210-73018644	A549	lung:	n/a	chr11:73018579-73018589
33	ZNF143	chr11:73018270-73019174	Hela-S3	cervix:	n/a	chr11:73018775-73018793
34	CTCF	chr11:73018254-73018722	H1-hESC	embryonic stem cell:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
35	HCFC1	chr11:73017853-73021101	Hela-S3	cervix:	n/a	n/a
36	PML	chr11:73018100-73018688	GM12878	blood:	n/a	n/a
37	CEBPD	chr11:73018405-73018770	HepG2	liver:	n/a	n/a
38	MAX	chr11:73018299-73020691	SK-N-SH	brain:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
39	HDAC2	chr11:73018269-73018729	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr11:73018192-73018634	A549	lung:	n/a	n/a
41	POLR2A	chr11:73018032-73019552	HL-60	blood:	n/a	n/a
42	MAX	chr11:73018184-73020563	A549	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
43	SIN3AK20	chr11:73018189-73019417	MCF-7	breast:	n/a	n/a
44	ZEB1	chr11:73018367-73018732	GM12878	blood:	n/a	n/a
45	ATF2	chr11:73018243-73018635	GM12878	blood:	n/a	n/a
46	SMC3	chr11:73016942-73021131	SK-N-SH	brain:	n/a	chr11:73018484-73018498 chr11:73017587-73017594 chr11:73019010-73019017
47	CEBPB	chr11:73018197-73020491	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:73018239-73020010	SK-N-SH	brain:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225
49	SRF	chr11:73018003-73018757	MCF-7	breast:	n/a	n/a
50	TCF12	chr11:73018185-73020781	SK-N-SH	brain:	n/a	chr11:73018579-73018589

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	chr11:73018564..73020076-chr11:73087520..73089366,2	K562	blood:
12	chr11:73018021..73018985-chr11:73071144..73072120,7	MCF-7	breast:
13	chr11:73018112..73018964-chr11:73045938..73047172,9	K562	blood:
14	chr11:73018458..73018974-chr11:73071154..73071755,2	K562	blood:
15	chr11:73018495..73019103-chr6:43149516..43150071,2	Hela-S3	cervix:
16	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
17	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
18	chr11:72925831..72928740-chr11:73018599..73020225,2	MCF-7	breast:
19	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
20	chr11:73000300..73001112-chr11:73018427..73018969,2	K562	blood:
21	chr11:73018219..73018909-chr11:73071294..73072092,3	MCF-7	breast:
22	chr11:73006222..73006797-chr11:73018007..73018967,3	K562	blood:
23	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
24	chr11:73006231..73006757-chr11:73018027..73018977,2	MCF-7	breast:
25	chr11:73018036..73019056-chr11:73104373..73105309,6	MCF-7	breast:
26	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
27	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000215841	Chromatin interaction
ENSG00000112659	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	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:73018000-73018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:73018000-73018800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:73018000-73019000	Active TSS	Thymus	Thymus
7	chr11:73018000-73019400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:73018000-73019400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:73018000-73019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:73018000-73021000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:73018200-73019600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:73018200-73019600	Active TSS	Psoas Muscle	Psoas
13	chr11:73018200-73019800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:73018200-73020200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:73018200-73020600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:73018200-73020800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:73018200-73020800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:73018200-73020800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:73018200-73020800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:73018200-73020800	Active TSS	Ovary	ovary
21	chr11:73018200-73021000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:73018200-73021000	Active TSS	Left Ventricle	heart
23	chr11:73018200-73022200	Active TSS	Aorta	Aorta
24	chr11:73018400-73018800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:73018400-73018800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:73018400-73018800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:73018400-73018800	Active TSS	Primary hematopoietic stem cells	blood
28	chr11:73018400-73018800	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:73018400-73018800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:73018400-73018800	Active TSS	Adipose Nuclei	Adipose
31	chr11:73018400-73018800	Active TSS	Liver	Liver
32	chr11:73018400-73018800	Active TSS	Duodenum Mucosa	Duodenum
33	chr11:73018400-73018800	Bivalent/Poised TSS	Fetal Thymus	thymus
34	chr11:73018400-73018800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:73018400-73019000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:73018400-73019000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:73018400-73019000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:73018400-73019000	Active TSS	Brain Germinal Matrix	brain
39	chr11:73018400-73019000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:73018400-73019000	Active TSS	Right Atrium	heart
41	chr11:73018400-73019000	Active TSS	HMEC	breast
42	chr11:73018400-73019000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:73018400-73019000	Active TSS	NH-A	brain
44	chr11:73018400-73019200	Active TSS	Fetal Brain Female	brain
45	chr11:73018400-73019200	Active TSS	Fetal Heart	heart
46	chr11:73018400-73019200	Bivalent/Poised TSS	Stomach Mucosa	stomach
47	chr11:73018400-73019400	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:73018400-73019400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:73018400-73019400	Active TSS	Brain Hippocampus Middle	brain
50	chr11:73018400-73019400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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