Variant report

Variant	rs7736949
Chromosome Location	chr5:57757113-57757114
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	MAX	chr5:57755462-57757152	HCT-116	colon:	n/a	chr5:57756022-57756031
2	RAD21	chr5:57754174-57757575	SK-N-SH	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
3	RAD21	chr5:57755489-57757166	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
4	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr5:57755452-57757190	ECC-1	luminal epithelium:	n/a	chr5:57756022-57756031
6	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
7	RAD21	chr5:57755132-57757160	MCF-7	breast:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
8	RAD21	chr5:57754545-57757114	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
9	RAD21	chr5:57755777-57757165	A549	lung:	n/a	chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
10	RFX5	chr5:57755678-57757175	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr5:57749882-57757124	MCF-7	breast:	n/a	n/a
12	MAX	chr5:57755365-57757155	A549	lung:	n/a	chr5:57756022-57756031
13	MXI1	chr5:57754212-57757144	IMR90	lung:	n/a	n/a
14	CTCF	chr5:57757060-57757210	HVMF	connective:	n/a	n/a
15	MAX	chr5:57754507-57757251	A549	lung:	n/a	chr5:57756022-57756031
16	SMC3	chr5:57753955-57757243	SK-N-SH	brain:	n/a	chr5:57756242-57756249 chr5:57756237-57756251 chr5:57756235-57756249 chr5:57756740-57756754
17	CTCF	chr5:57754970-57757306	SK-N-SH	brain:	n/a	chr5:57756239-57756248 chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756238-57756251 chr5:57756235-57756248 chr5:57756738-57756756 chr5:57756733-57756754
18	MAZ	chr5:57755474-57757165	IMR90	lung:	n/a	chr5:57756022-57756031
19	CTCF	chr5:57755756-57757137	HCT-116	colon:	n/a	chr5:57756239-57756248 chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756238-57756251 chr5:57756235-57756248 chr5:57756738-57756756 chr5:57756733-57756754
20	CHD1	chr5:57751128-57757458	IMR90	lung:	n/a	n/a
21	KAP1	chr5:57755687-57757174	HEK293	kidney:	n/a	n/a
22	SIX5	chr5:57756415-57757139	A549	lung:	n/a	n/a
23	RAD21	chr5:57755678-57757138	ECC-1	luminal epithelium:	n/a	chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
24	CTCF	chr5:57754818-57757550	A549	lung:	n/a	chr5:57756239-57756248 chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756238-57756251 chr5:57756235-57756248 chr5:57756738-57756756 chr5:57756733-57756754
25	GATA3	chr5:57753849-57757113	A549	lung:	n/a	n/a
26	RAD21	chr5:57755119-57757169	A549	lung:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
27	POLR2A	chr5:57752689-57757258	PANC-1	pancreas:	n/a	n/a
28	KAP1	chr5:57756722-57757253	U2OS	brain:	n/a	n/a
29	CTCF	chr5:57757040-57757190	AG04449	skin:	n/a	n/a
30	SETDB1	chr5:57756581-57757391	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57068006..57070437-chr5:57756613..57758535,2	MCF-7	breast:
2	chr17:56707798..56710603-chr5:57755406..57757452,2	MCF-7	breast:
3	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
4	chr5:57183468..57184088-chr5:57756668..57757203,2	MCF-7	breast:
5	chr1:11968161..11969978-chr5:57755723..57757847,2	MCF-7	breast:
6	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:
7	chr5:57158588..57161134-chr5:57757060..57758676,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
ENSG00000199347	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000147789	Chromatin interaction
ENSG00000238899	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1035484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1035485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1042994	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11546180	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12513877	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12513905	0.90[AMR][1000 genomes]
rs12518781	0.84[AFR][1000 genomes]
rs12522386	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs13168504	0.87[AFR][1000 genomes]
rs13184050	0.87[AFR][1000 genomes]
rs13188849	0.87[AFR][1000 genomes]
rs16888201	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17709855	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs17710502	0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17710615	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17767072	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2201293	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2220785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2408946	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2408947	0.85[AMR][1000 genomes]
rs33921924	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34150563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34974449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699926	0.87[AFR][1000 genomes]
rs4700289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55665530	0.80[EUR][1000 genomes]
rs55827457	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56010771	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs56286824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56318521	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs59135347	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs62366360	0.88[AFR][1000 genomes]
rs6450474	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879330	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6882289	0.88[AFR][1000 genomes]
rs6890785	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72758173	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72758189	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72758190	0.80[EUR][1000 genomes]
rs72758193	0.80[EUR][1000 genomes]
rs7701530	0.87[AFR][1000 genomes]
rs7706545	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7708381	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7725097	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs929818	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3437453	chr5:57755020-57757568	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57756600-57757200	Enhancers	Fetal Brain Male	brain
2	chr5:57756800-57757200	Enhancers	Fetal Intestine Small	intestine
3	chr5:57756800-57757200	Flanking Active TSS	A549	lung
4	chr5:57756800-57757800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:57756800-57757800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:57756800-57757800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:57756800-57757800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:57756800-57757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:57756800-57758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:57756800-57758000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:57756800-57758000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:57756800-57758000	Enhancers	Fetal Intestine Large	intestine
13	chr5:57756800-57758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:57756800-57758000	Enhancers	HepG2	liver
15	chr5:57756800-57758400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:57756800-57758600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:57756800-57758600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:57756800-57758600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:57756800-57758600	Enhancers	Dnd41	blood
20	chr5:57756800-57758600	Enhancers	HUVEC	blood vessel
21	chr5:57756800-57759200	Weak transcription	Small Intestine	intestine
22	chr5:57756800-57762800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:57756800-57762800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:57757000-57757200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:57757000-57757200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:57757000-57757200	Enhancers	Primary B cells from cord blood	blood
27	chr5:57757000-57757200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:57757000-57757200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr5:57757000-57757200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:57757000-57757200	Enhancers	NHEK	skin
31	chr5:57757000-57757400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:57757000-57757400	Enhancers	NH-A	brain
33	chr5:57757000-57757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:57757000-57757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:57757000-57757600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:57757000-57757800	Enhancers	Liver	Liver
37	chr5:57757000-57757800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:57757000-57758000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:57757000-57758000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:57757000-57758000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:57757000-57758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:57757000-57758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:57757000-57758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:57757000-57758000	Weak transcription	Placenta	Placenta
45	chr5:57757000-57758000	Weak transcription	HSMM	muscle
46	chr5:57757000-57758000	Weak transcription	HSMMtube	muscle
47	chr5:57757000-57758000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:57757000-57758000	Weak transcription	NHDF-Ad	bronchial
49	chr5:57757000-57758000	Weak transcription	NHLF	lung
50	chr5:57757000-57758000	Weak transcription	Osteobl	bone

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