Variant report

Variant	rs375817526
Chromosome Location	chr11:73018044-73018045
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	CTCF	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
2	TEAD4	chr11:73017872-73019160	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr11:73018005-73019570	H1-hESC	embryonic stem cell:	n/a	chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
4	PBX3	chr11:73017961-73019645	A549	lung:	n/a	n/a
5	NFIC	chr11:73017866-73020697	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr11:73018000-73018344	H1-hESC	embryonic stem cell:	n/a	n/a
7	HCFC1	chr11:73017853-73021101	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:73018032-73019552	HL-60	blood:	n/a	n/a
9	SMC3	chr11:73016942-73021131	SK-N-SH	brain:	n/a	chr11:73018484-73018498 chr11:73017587-73017594 chr11:73019010-73019017
10	SRF	chr11:73018003-73018757	MCF-7	breast:	n/a	n/a
11	MAX	chr11:73017906-73020898	ECC-1	luminal epithelium:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
12	CHD1	chr11:73017930-73018758	IMR90	lung:	n/a	n/a
13	TAF1	chr11:73018028-73020780	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr11:73017619-73020165	SK-N-SH	brain:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505 chr11:73019470-73019483
15	CTCF	chr11:73017990-73018940	HCT-116	colon:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
16	RUNX3	chr11:73017991-73019912	GM12878	blood:	n/a	n/a
17	CEBPB	chr11:73018030-73018739	MCF-7	breast:	n/a	n/a
18	RAD21	chr11:73018028-73019111	HCT-116	colon:	n/a	chr11:73019012-73019025 chr11:73018483-73018502 chr11:73019095-73019105
19	SIX5	chr11:73017834-73018709	A549	lung:	n/a	n/a
20	RAD21	chr11:73018044-73019268	HCT-116	colon:	n/a	chr11:73019012-73019025 chr11:73018483-73018502 chr11:73019095-73019105
21	EP300	chr11:73017822-73020803	ECC-1	luminal epithelium:	n/a	chr11:73019430-73019446
22	POLR2A	chr11:73018003-73018626	U87	brain:	n/a	n/a
23	RAD21	chr11:73018032-73018861	A549	lung:	n/a	chr11:73018483-73018502
24	RAD21	chr11:73017909-73020182	SK-N-SH	brain:	n/a	chr11:73019641-73019655 chr11:73019012-73019025 chr11:73018483-73018502 chr11:73019095-73019105
25	POLR2A	chr11:73018003-73018406	U87	brain:	n/a	n/a
26	CTCF	chr11:73018020-73018170	HFF-Myc	foreskin:	n/a	n/a
27	TCF12	chr11:73018035-73020659	A549	lung:	n/a	chr11:73018579-73018589
28	MXI1	chr11:73017966-73022341	IMR90	lung:	n/a	chr11:73019505-73019520 chr11:73018580-73018589
29	ZBTB7A	chr11:73018039-73020039	ECC-1	luminal epithelium:	n/a	chr11:73018490-73018499 chr11:73018617-73018626
30	MAX	chr11:73018040-73019528	H1-hESC	embryonic stem cell:	n/a	chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
31	MAZ	chr11:73017713-73021631	IMR90	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
32	STAT3	chr11:73017873-73018548	MCF10A-Er-Src	breast:	n/a	chr11:73018182-73018194
33	MTA3	chr11:73017948-73018768	GM12878	blood:	n/a	n/a
34	MXI1	chr11:73017809-73020610	SK-N-SH	brain:	n/a	chr11:73019505-73019520 chr11:73018580-73018589
35	CTCF	chr11:73018034-73018755	MCF-7	breast:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018484-73018505
36	TEAD4	chr11:73017915-73018595	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr11:73017839-73021172	ECC-1	luminal epithelium:	n/a	chr11:73018579-73018589
38	POLR2A	chr11:73017908-73020944	HUVEC	blood vessel:	n/a	n/a
39	SIN3AK20	chr11:73017955-73020805	MCF-7	breast:	n/a	n/a
40	TCF12	chr11:73017790-73018722	ECC-1	luminal epithelium:	n/a	chr11:73018579-73018589
41	TEAD4	chr11:73017892-73018557	ECC-1	luminal epithelium:	n/a	n/a
42	NFIC	chr11:73017902-73018785	ECC-1	luminal epithelium:	n/a	n/a
43	ZBTB7A	chr11:73018005-73020486	ECC-1	luminal epithelium:	n/a	chr11:73018490-73018499 chr11:73018617-73018626
44	MAX	chr11:73017947-73021002	ECC-1	luminal epithelium:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186
45	RCOR1	chr11:73017408-73021448	IMR90	lung:	n/a	n/a
46	MAX	chr11:73017894-73020800	A549	lung:	n/a	chr11:73019591-73019600 chr11:73019467-73019477 chr11:73019218-73019225 chr11:73018176-73018186

No.	Distal block	Cell Line	Cell type
1	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
2	chr11:73017966..73018926-chr11:73046011..73047270,11	MCF-7	breast:
3	chr11:73017499..73019012-chr11:73106974..73109687,2	MCF-7	breast:
4	chr11:73017965..73019018-chr11:73046229..73047203,8	MCF-7	breast:
5	chr11:73012187..73014199-chr11:73016875..73018746,2	K562	blood:
6	chr11:73018021..73018985-chr11:73071144..73072120,7	MCF-7	breast:
7	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
8	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
9	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
10	chr11:73006222..73006797-chr11:73018007..73018967,3	K562	blood:
11	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
12	chr11:73006231..73006757-chr11:73018027..73018977,2	MCF-7	breast:
13	chr11:73018036..73019056-chr11:73104373..73105309,6	MCF-7	breast:
14	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
15	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:

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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73016800-73018200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:73017000-73018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:73017000-73018800	Enhancers	Spleen	Spleen
4	chr11:73017200-73018200	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:73017200-73018800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:73017400-73018200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:73017400-73018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:73017400-73018200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:73017400-73018200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr11:73017400-73018200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:73017400-73018200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:73017400-73018200	Enhancers	Fetal Muscle Trunk	muscle
13	chr11:73017400-73018200	Enhancers	Placenta	Placenta
14	chr11:73017400-73018200	Enhancers	Fetal Thymus	thymus
15	chr11:73017400-73018400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:73017600-73018200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:73017600-73018200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:73017600-73018200	Enhancers	Fetal Heart	heart
19	chr11:73017600-73018400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:73017600-73018600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:73017600-73018600	Enhancers	Gastric	stomach
22	chr11:73017800-73018200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr11:73017800-73018200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:73017800-73018200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:73017800-73018200	Enhancers	Adipose Nuclei	Adipose
26	chr11:73017800-73018200	Enhancers	Liver	Liver
27	chr11:73017800-73018200	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:73017800-73018200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:73017800-73018200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:73017800-73018200	Enhancers	Fetal Brain Male	brain
31	chr11:73017800-73018200	Enhancers	Fetal Brain Female	brain
32	chr11:73017800-73018200	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr11:73017800-73018200	Enhancers	HSMMtube	muscle
34	chr11:73017800-73018400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:73017800-73018400	Flanking Active TSS	Hela-S3	cervix
36	chr11:73017800-73018400	Flanking Active TSS	HepG2	liver
37	chr11:73017800-73018600	Flanking Active TSS	NHEK	skin
38	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:73018000-73018200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:73018000-73018200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:73018000-73018200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr11:73018000-73018200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:73018000-73018200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:73018000-73018200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr11:73018000-73018200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr11:73018000-73018200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:73018000-73018200	Enhancers	Brain Angular Gyrus	brain
48	chr11:73018000-73018200	Enhancers	Brain Anterior Caudate	brain
49	chr11:73018000-73018200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:73018000-73018200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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