Variant report

Variant	rs4663327
Chromosome Location	chr2:234617632-234617633
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	MAX	chr2:234616100-234618160	A549	lung:	n/a	n/a
2	USF1	chr2:234617535-234617911	ECC-1	luminal epithelium:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
3	NFYB	chr2:234617613-234617860	Hela-S3	cervix:	n/a	chr2:234617720-234617735 chr2:234617789-234617804
4	USF1	chr2:234617570-234617935	SK-N-SH	brain:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
5	GATA3	chr2:234616280-234617649	A549	lung:	n/a	chr2:234617062-234617078 chr2:234617067-234617074 chr2:234617065-234617075 chr2:234617067-234617074 chr2:234617066-234617074 chr2:234617067-234617074 chr2:234617067-234617077
6	USF1	chr2:234617575-234617929	H1-hESC	embryonic stem cell:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
7	USF1	chr2:234617518-234617998	A549	lung:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
8	EP300	chr2:234616111-234617875	A549	lung:	n/a	n/a
9	USF1	chr2:234617527-234617912	A549	lung:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
10	USF1	chr2:234617541-234617920	K562	blood:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
11	USF1	chr2:234617509-234617996	H1-hESC	embryonic stem cell:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
12	USF1	chr2:234617618-234617915	A549	lung:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
13	USF1	chr2:234617493-234618026	HCT-116	colon:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
14	MAX	chr2:234617572-234617876	A549	lung:	n/a	n/a
15	USF1	chr2:234617613-234617937	SK-N-SH_RA	brain:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
16	USF2	chr2:234617625-234617949	Hela-S3	cervix:	n/a	chr2:234617807-234617818 chr2:234617737-234617748
17	USF1	chr2:234617601-234617941	K562	blood:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
18	USF1	chr2:234617514-234617944	A549	lung:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
19	USF1	chr2:234617596-234617908	ECC-1	luminal epithelium:	n/a	chr2:234617737-234617748 chr2:234617807-234617818
20	TCF12	chr2:234615996-234618019	A549	lung:	n/a	n/a
21	SP1	chr2:234616247-234617981	A549	lung:	n/a	chr2:234617399-234617413 chr2:234617400-234617409 chr2:234617404-234617413
22	NFYB	chr2:234617632-234617859	K562	blood:	n/a	chr2:234617720-234617735 chr2:234617789-234617804
23	SIX5	chr2:234616607-234617944	A549	lung:	n/a	n/a
24	USF1	chr2:234617536-234617921	A549	lung:	n/a	chr2:234617737-234617748 chr2:234617807-234617818

No.	Distal block	Cell Line	Cell type
1	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:
2	chr2:234400105..234405009-chr2:234616033..234619892,4	MCF-7	breast:
3	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
4	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
5	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
6	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
7	chr2:234388450..234390817-chr2:234616855..234619470,2	MCF-7	breast:

Variant related genes	Relation type
UGT1A5	TF binding region
UGT1A8	TF binding region
ENSG00000224814	TF binding region
ENSG00000167165	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000240224	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1018124	0.87[JPT][hapmap]
rs10929293	0.87[JPT][hapmap]
rs12052787	0.87[JPT][hapmap]
rs12053462	0.80[JPT][hapmap]
rs12463641	0.87[JPT][hapmap]
rs12466747	0.80[JPT][hapmap]
rs12466779	0.87[JPT][hapmap]
rs12466997	0.87[JPT][hapmap]
rs12468356	0.87[JPT][hapmap]
rs12468543	0.87[JPT][hapmap]
rs12472689	0.80[JPT][hapmap]
rs12474215	0.80[JPT][hapmap]
rs12474980	0.80[JPT][hapmap]
rs12475068	0.92[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs12476197	0.80[JPT][hapmap]
rs12477216	0.92[CEU][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs12479045	0.87[JPT][hapmap]
rs12479208	0.87[JPT][hapmap]
rs1604144	0.84[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs17862857	0.80[JPT][hapmap]
rs17862866	0.86[CHB][hapmap]
rs17862867	0.88[EUR][1000 genomes]
rs17862870	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs17862871	0.88[EUR][1000 genomes]
rs17862878	0.87[JPT][hapmap]
rs17863790	0.88[EUR][1000 genomes]
rs17863791	0.92[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs17863792	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap]
rs17863798	0.87[JPT][hapmap]
rs17864686	0.80[JPT][hapmap]
rs17864696	0.87[EUR][1000 genomes]
rs17864705	0.87[JPT][hapmap]
rs17868325	0.80[JPT][hapmap]
rs17868333	0.88[EUR][1000 genomes]
rs17868334	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs17868335	0.87[EUR][1000 genomes]
rs17868342	0.87[JPT][hapmap]
rs17874943	0.92[CEU][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs2003569	0.87[JPT][hapmap]
rs2008595	0.81[CHB][hapmap]
rs2013018	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs2013021	0.92[CEU][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs2013030	0.92[CEU][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs2602381	0.80[JPT][hapmap]
rs2885295	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs28898595	0.88[EUR][1000 genomes]
rs28898596	0.92[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs28898605	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs28898615	0.87[JPT][hapmap]
rs28898621	0.87[JPT][hapmap]
rs28899186	0.87[JPT][hapmap]
rs28899187	0.87[JPT][hapmap]
rs28899189	0.87[JPT][hapmap]
rs28946877	0.80[JPT][hapmap]
rs28946885	0.90[CEU][hapmap]
rs3732218	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs3732219	0.83[EUR][1000 genomes]
rs3732220	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs3732221	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs3755320	0.88[EUR][1000 genomes]
rs3755321	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs3755322	0.87[EUR][1000 genomes]
rs3755323	0.88[EUR][1000 genomes]
rs3771342	0.87[JPT][hapmap]
rs3796088	0.87[JPT][hapmap]
rs3806591	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs3806593	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs3806594	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs3806595	0.92[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs3806596	0.81[CHB][hapmap]
rs3806597	0.81[CHB][hapmap]
rs3892170	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs3893334	0.92[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs4233633	0.90[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4294999	0.81[CHB][hapmap]
rs4485562	0.80[JPT][hapmap]
rs4556969	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs4663325	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663326	1.00[CEU][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs4663871	0.80[JPT][hapmap]
rs4663945	0.92[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs4663963	0.81[CHB][hapmap]
rs4663964	0.87[JPT][hapmap]
rs4663965	0.81[CHB][hapmap]
rs4663968	0.87[JPT][hapmap]
rs5020121	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs62191898	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431628	0.81[CHB][hapmap]
rs6715325	0.81[CHB][hapmap]
rs6751673	0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs6753317	0.80[JPT][hapmap]
rs7420193	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs7572563	0.86[CHB][hapmap]
rs7597496	0.81[CHB][hapmap]
rs871514	0.81[CHB][hapmap]
rs904855	0.87[JPT][hapmap]
rs904856	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2760615	chr2:234613030-234640233	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234614400-234618000	Enhancers	Stomach Mucosa	stomach
2	chr2:234614800-234617800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:234615000-234619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:234615400-234620400	Weak transcription	Pancreas	Pancrea
5	chr2:234615600-234620000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:234616000-234618600	Weak transcription	Liver	Liver
7	chr2:234617000-234619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:234617200-234617800	Enhancers	Esophagus	oesophagus
9	chr2:234617200-234617800	Enhancers	Gastric	stomach
10	chr2:234617200-234619000	Weak transcription	NHEK	skin
11	chr2:234617400-234618000	Enhancers	Hela-S3	cervix
12	chr2:234617400-234619000	Enhancers	A549	lung
13	chr2:234617400-234619800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:234617400-234619800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:234617400-234620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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