Variant report

Variant	rs2277717
Chromosome Location	chr18:44702718-44702719
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:380)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:44702430-44702925	HCT-116	colon:	n/a	n/a
2	CHD2	chr18:44702560-44702729	K562	blood:	n/a	n/a
3	POLR2A	chr18:44702469-44702890	K562	blood:	n/a	n/a
4	POLR2A	chr18:44702408-44702893	MCF-7	breast:	n/a	n/a
5	FOXM1	chr18:44702424-44702963	GM12878	blood:	n/a	n/a
6	CTCF	chr18:44702685-44702727	GM12891	blood:	n/a	n/a
7	POLR2A	chr18:44702332-44702912	PBDE	blood:	n/a	n/a
8	JUND	chr18:44702590-44702907	A549	lung:	n/a	n/a
9	CEBPD	chr18:44702528-44702869	HepG2	liver:	n/a	n/a
10	ZBTB7A	chr18:44702450-44702787	K562	blood:	n/a	n/a
11	HCFC1	chr18:44702452-44702947	K562	blood:	n/a	n/a
12	CTCF	chr18:44702620-44702770	GM12869	blood:	n/a	n/a
13	YY1	chr18:44702055-44702973	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr18:44702224-44702964	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr18:44702327-44702895	GM12878	blood:	n/a	n/a
16	ELK1	chr18:44702702-44702791	K562	blood:	n/a	n/a
17	POLR2A	chr18:44702462-44702835	GM12878	blood:	n/a	n/a
18	TAF1	chr18:44702482-44703006	PFSK-1	brain:	n/a	n/a
19	CTCF	chr18:44702580-44702730	Hela-S3	cervix:	n/a	n/a
20	ETS1	chr18:44702614-44702835	K562	blood:	n/a	n/a
21	MAX	chr18:44702332-44703039	HepG2	liver:	n/a	n/a
22	POLR2A	chr18:44702436-44702862	HUVEC	blood vessel:	n/a	n/a
23	MAX	chr18:44702399-44702923	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr18:44702401-44702887	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOS	chr18:44702641-44702874	MCF10A-Er-Src	breast:	n/a	n/a
26	SIN3AK20	chr18:44702311-44702877	PANC-1	pancreas:	n/a	n/a
27	ZNF143	chr18:44702516-44702894	GM12878	blood:	n/a	n/a
28	ELF1	chr18:44702592-44702850	K562	blood:	n/a	chr18:44702686-44702698
29	POLR2A	chr18:44702388-44702892	ECC-1	luminal epithelium:	n/a	n/a
30	BHLHE40	chr18:44702530-44702867	K562	blood:	n/a	n/a
31	CTCF	chr18:44702689-44702734	A549	lung:	n/a	n/a
32	POLR2A	chr18:44702493-44702775	A549	lung:	n/a	n/a
33	CTCF	chr18:44702680-44702830	WERI-Rb-1	eye:	n/a	chr18:44702775-44702788
34	CHD2	chr18:44702408-44702854	HepG2	liver:	n/a	n/a
35	POLR2A	chr18:44702317-44702992	HUVEC	blood vessel:	n/a	n/a
36	CCNT2	chr18:44702484-44702876	K562	blood:	n/a	n/a
37	YY1	chr18:44702453-44702930	ECC-1	luminal epithelium:	n/a	n/a
38	CHD2	chr18:44702529-44702829	GM12878	blood:	n/a	n/a
39	MYC	chr18:44702174-44702962	NB4	blood:	n/a	n/a
40	ZBTB33	chr18:44702611-44702860	A549	lung:	n/a	n/a
41	TBL1XR1	chr18:44702605-44702828	K562	blood:	n/a	n/a
42	YY1	chr18:44702449-44702768	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr18:44702333-44702995	MCF-7	breast:	n/a	n/a
44	E2F6	chr18:44702640-44702765	K562	blood:	n/a	chr18:44702688-44702698 chr18:44702684-44702696
45	POLR2A	chr18:44702494-44702788	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr18:44702620-44702770	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr18:44702620-44702770	AG10803	skin:	n/a	n/a
48	YY1	chr18:44702305-44702935	HepG2	liver:	n/a	n/a
49	POLR2A	chr18:44702403-44703005	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr18:44702660-44702810	AG09319	gingival:	n/a	chr18:44702775-44702788

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44675372..44679287-chr18:44700113..44704114,10	MCF-7	breast:
2	chr18:44675848..44678361-chr18:44699497..44704011,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267228	TF binding region
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11663321	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12960378	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12960444	0.84[EUR][1000 genomes]
rs12963648	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12964465	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2251948	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2461247	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571001	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2571009	0.84[AMR][1000 genomes]
rs2571016	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2576030	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2576031	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576053	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2576056	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576060	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2635040	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635041	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2635042	0.96[ASN][1000 genomes]
rs2635043	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635045	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2635046	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2635047	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2635049	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2635050	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2668779	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2684818	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2684820	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684822	0.84[AMR][1000 genomes]
rs2684825	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684826	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28693565	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28702976	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2932126	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3816125	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7242978	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7504798	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304341	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9960264	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44700800-44703000	Active TSS	Colonic Mucosa	Colon
2	chr18:44701000-44702800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:44701000-44703000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:44701200-44702800	Active TSS	Fetal Muscle Trunk	muscle
5	chr18:44701200-44702800	Active TSS	Pancreas	Pancrea
6	chr18:44701200-44703000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr18:44701200-44703000	Active TSS	Aorta	Aorta
8	chr18:44701200-44703000	Active TSS	Psoas Muscle	Psoas
9	chr18:44701200-44703200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:44701400-44702800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:44701400-44703000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr18:44701400-44703000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:44701400-44703000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:44701400-44703000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:44701400-44703000	Active TSS	Ovary	ovary
16	chr18:44701400-44703000	Active TSS	Right Atrium	heart
17	chr18:44701400-44703000	Active TSS	NHDF-Ad	bronchial
18	chr18:44701400-44703000	Active TSS	NHLF	lung
19	chr18:44701600-44702800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:44701600-44702800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr18:44701600-44702800	Active TSS	Placenta	Placenta
22	chr18:44701600-44702800	Active TSS	Lung	lung
23	chr18:44701600-44702800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr18:44701600-44702800	Active TSS	Stomach Mucosa	stomach
25	chr18:44701600-44702800	Active TSS	GM12878-XiMat	blood
26	chr18:44701600-44703000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr18:44701600-44703000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:44701600-44703000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr18:44701600-44703000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:44701600-44703000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:44701600-44703000	Active TSS	Fetal Intestine Large	intestine
32	chr18:44701600-44703000	Active TSS	Fetal Intestine Small	intestine
33	chr18:44701600-44703000	Active TSS	Fetal Kidney	kidney
34	chr18:44701600-44703000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr18:44701600-44703000	Active TSS	Fetal Thymus	thymus
36	chr18:44701600-44703000	Active TSS	Left Ventricle	heart
37	chr18:44701600-44703000	Active TSS	HSMM	muscle
38	chr18:44701600-44703000	Active TSS	HSMMtube	muscle
39	chr18:44701600-44703000	Active TSS	NH-A	brain
40	chr18:44701600-44703200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr18:44701600-44703200	Active TSS	Stomach Smooth Muscle	stomach
42	chr18:44701600-44703200	Active TSS	HepG2	liver
43	chr18:44701800-44702800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:44701800-44702800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:44701800-44702800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:44701800-44702800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:44701800-44702800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:44701800-44702800	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr18:44701800-44702800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr18:44701800-44702800	Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links