Variant report

Variant	rs593713
Chromosome Location	chr18:11887657-11887658
allele	A/G
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	NR2F2	chr18:11887421-11888193	MCF-7	breast:	n/a	n/a
2	MAFK	chr18:11887580-11888063	Hela-S3	cervix:	n/a	chr18:11887846-11887855
3	GATA3	chr18:11887469-11888068	SK-N-SH	brain:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887738-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
4	SIN3AK20	chr18:11887287-11888218	MCF-7	breast:	n/a	n/a
5	EP300	chr18:11887612-11888007	MCF-7	breast:	n/a	n/a
6	USF2	chr18:11887366-11888472	Hela-S3	cervix:	n/a	n/a
7	TCF7L2	chr18:11887462-11888019	MCF-7	breast:	n/a	chr18:11887845-11887854
8	JUND	chr18:11887435-11888068	MCF-7	breast:	n/a	chr18:11887844-11887854 chr18:11887845-11887853 chr18:11888002-11888014 chr18:11887844-11887854 chr18:11887843-11887855 chr18:11887843-11887854
9	MAX	chr18:11887407-11888096	Hela-S3	cervix:	n/a	n/a
10	JUN	chr18:11887498-11888188	Hela-S3	cervix:	n/a	chr18:11887844-11887854 chr18:11887845-11887853 chr18:11888002-11888014 chr18:11887844-11887854 chr18:11887843-11887855
11	BRCA1	chr18:11887157-11888190	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr18:11887409-11888106	Hela-S3	cervix:	n/a	n/a
13	TAL1	chr18:11887586-11887763	K562	blood:	n/a	chr18:11887658-11887676
14	RCOR1	chr18:11887265-11888263	Hela-S3	cervix:	n/a	n/a
15	SMC3	chr18:11887334-11888136	Hela-S3	cervix:	n/a	n/a
16	NR2F2	chr18:11887411-11888264	MCF-7	breast:	n/a	n/a
17	STAT3	chr18:11887520-11888089	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr18:11887363-11888189	MCF-7	breast:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887738-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
19	CCNT2	chr18:11887644-11888068	K562	blood:	n/a	chr18:11887656-11887676
20	EP300	chr18:11887595-11887980	A549	lung:	n/a	n/a
21	EP300	chr18:11887563-11887958	HepG2	liver:	n/a	n/a
22	FOS	chr18:11887472-11888304	Hela-S3	cervix:	n/a	chr18:11887844-11887854 chr18:11887845-11887853 chr18:11888002-11888014 chr18:11887844-11887854 chr18:11887843-11887855
23	GATA3	chr18:11887356-11888269	MCF-7	breast:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887738-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
24	GATA3	chr18:11887363-11888237	A549	lung:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887738-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
25	SP1	chr18:11887552-11887992	A549	lung:	n/a	n/a
26	CEBPD	chr18:11887552-11887975	K562	blood:	n/a	n/a
27	TEAD4	chr18:11887443-11887934	K562	blood:	n/a	n/a
28	MAX	chr18:11887358-11888035	Hela-S3	cervix:	n/a	n/a
29	TCF12	chr18:11887508-11887880	A549	lung:	n/a	n/a
30	MYC	chr18:11887655-11887913	K562	blood:	n/a	n/a
31	GATA3	chr18:11887543-11888042	A549	lung:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887738-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
32	TCF7L2	chr18:11887414-11888231	Hela-S3	cervix:	n/a	chr18:11887845-11887854
33	FOXA2	chr18:11887656-11888033	HepG2	liver:	n/a	n/a
34	PRDM1	chr18:11887310-11888104	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr18:11887398-11888064	Hela-S3	cervix:	n/a	n/a
36	MXI1	chr18:11887238-11888078	Hela-S3	cervix:	n/a	n/a
37	TCF7L2	chr18:11887548-11888113	Hela-S3	cervix:	n/a	chr18:11887845-11887854
38	GATA1	chr18:11887358-11888191	K562	blood:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
39	CEBPB	chr18:11887558-11887995	MCF-7	breast:	n/a	n/a
40	JUND	chr18:11887320-11888084	Hela-S3	cervix:	n/a	chr18:11887844-11887854 chr18:11887845-11887853 chr18:11888002-11888014 chr18:11887844-11887854 chr18:11887843-11887855 chr18:11887843-11887854
41	FOSL2	chr18:11887580-11888029	MCF-7	breast:	n/a	chr18:11887844-11887854 chr18:11887845-11887853 chr18:11888002-11888014 chr18:11887844-11887854 chr18:11887843-11887855
42	EP300	chr18:11887546-11887916	K562	blood:	n/a	n/a
43	RFX5	chr18:11887391-11888053	Hela-S3	cervix:	n/a	n/a
44	ZNF217	chr18:11887619-11887986	MCF-7	breast:	n/a	n/a
45	SIN3AK20	chr18:11887513-11888150	MCF-7	breast:	n/a	n/a
46	TBP	chr18:11887518-11888019	Hela-S3	cervix:	n/a	n/a
47	GATA3	chr18:11887528-11887958	MCF-7	breast:	n/a	chr18:11887737-11887747 chr18:11887737-11887746 chr18:11887738-11887746 chr18:11887734-11887750 chr18:11887732-11887753 chr18:11887739-11887746
48	FOSL2	chr18:11887575-11888060	A549	lung:	n/a	chr18:11887844-11887854 chr18:11887845-11887853 chr18:11888002-11888014 chr18:11887844-11887854 chr18:11887843-11887855
49	RCOR1	chr18:11887585-11887927	K562	blood:	n/a	n/a
50	HDAC2	chr18:11887473-11888076	MCF-7	breast:	n/a	chr18:11887738-11887747

No.	Distal block	Cell Line	Cell type
1	chr18:11882735..11885696-chr18:11887267..11889174,2	MCF-7	breast:
2	chr18:11885563..11889310-chr18:11906331..11909961,4	MCF-7	breast:
3	chr18:11885013..11887914-chr18:11888832..11891708,3	K562	blood:

Variant related genes	Relation type
MPPE1	TF binding region
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3974590	0.80[CEU][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap]
rs605961	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs6505679	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs662515	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689057	0.93[CEU][hapmap];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv909382	chr18:11870015-11892860	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
2	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
3	chr18:11873200-11902000	Weak transcription	Fetal Heart	heart
4	chr18:11876800-11902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:11877000-11902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:11878200-11895000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr18:11878200-11902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr18:11880600-11891600	Strong transcription	Adipose Nuclei	Adipose
10	chr18:11880800-11891000	Strong transcription	Primary T cells from cord blood	blood
11	chr18:11881600-11898400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr18:11881800-11906200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:11882200-11889000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
15	chr18:11882800-11891000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr18:11882800-11895600	Weak transcription	NHDF-Ad	bronchial
17	chr18:11883000-11890800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:11883400-11897000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:11883600-11893600	Weak transcription	HUVEC	blood vessel
20	chr18:11883600-11896800	Strong transcription	Fetal Intestine Small	intestine
21	chr18:11883600-11907000	Weak transcription	NH-A	brain
22	chr18:11883800-11888400	Strong transcription	Ovary	ovary
23	chr18:11883800-11890600	Strong transcription	Left Ventricle	heart
24	chr18:11883800-11890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr18:11883800-11891000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr18:11883800-11894200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr18:11883800-11898400	Strong transcription	Fetal Stomach	stomach
28	chr18:11884000-11888600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr18:11884000-11889000	Strong transcription	Fetal Lung	lung
30	chr18:11884000-11889400	Strong transcription	Osteobl	bone
31	chr18:11884000-11890000	Strong transcription	Aorta	Aorta
32	chr18:11884000-11890800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr18:11884000-11890800	Strong transcription	Esophagus	oesophagus
34	chr18:11884000-11891000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:11884000-11891800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:11884000-11893000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:11884000-11893400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:11884000-11893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:11884000-11893800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr18:11884000-11894200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:11884000-11897000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:11884000-11897200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr18:11884000-11898200	Strong transcription	Fetal Muscle Leg	muscle
44	chr18:11884000-11898800	Strong transcription	Thymus	Thymus
45	chr18:11884000-11899800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:11884000-11906200	Strong transcription	Fetal Thymus	thymus
47	chr18:11884200-11888200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:11884200-11888800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr18:11884200-11889800	Strong transcription	Brain Hippocampus Middle	brain
50	chr18:11884200-11890800	Strong transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links