Variant report

Variant	rs3755323
Chromosome Location	chr2:234621780-234621781
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	CTCF	chr2:234621669-234621880	HepG2	liver:	n/a	n/a
2	CTCF	chr2:234621669-234621820	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:234621660-234621810	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
2	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224814	TF binding region
ENSG00000224814	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1018124	0.93[ASN][1000 genomes]
rs10929293	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12052787	0.93[ASN][1000 genomes]
rs12463641	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12463910	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12466747	0.85[ASN][1000 genomes]
rs12466779	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12466997	0.93[ASN][1000 genomes]
rs12468274	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12468356	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12468543	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12474980	0.81[ASN][1000 genomes]
rs12475068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475934	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12476197	0.82[ASN][1000 genomes]
rs12477216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479045	0.94[ASN][1000 genomes]
rs12479208	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17862867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862868	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17862869	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17862870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862872	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17862878	0.94[ASN][1000 genomes]
rs17863790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863798	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17864686	0.80[ASN][1000 genomes]
rs17864696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864697	0.94[ASN][1000 genomes]
rs17864705	0.94[ASN][1000 genomes]
rs17868325	0.80[ASN][1000 genomes]
rs17868333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868334	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17874943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003569	0.93[ASN][1000 genomes]
rs2011219	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2011425	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2012736	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2013018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013021	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28898595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28898596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28898605	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28898615	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28898621	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28899186	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28899187	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28899189	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28899191	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3732217	0.83[ASN][1000 genomes]
rs3732218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732221	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771342	0.94[ASN][1000 genomes]
rs3796088	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3806591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892170	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3893334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485562	0.80[ASN][1000 genomes]
rs4556969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663325	0.88[EUR][1000 genomes]
rs4663326	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4663327	0.88[EUR][1000 genomes]
rs4663945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663964	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4663966	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4663968	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5020121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191898	0.88[EUR][1000 genomes]
rs62191916	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62191917	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62191918	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6431633	1.00[YRI][hapmap]
rs6753317	0.80[ASN][1000 genomes]
rs7420193	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs904855	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs904856	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv963781	chr2:234618109-234626863	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv876017	chr2:234618243-234626972	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3382515	chr2:234620643-234626555	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234619800-234623000	Enhancers	Thymus	Thymus
3	chr2:234620000-234622200	Enhancers	Fetal Intestine Large	intestine
4	chr2:234620200-234622200	Enhancers	Fetal Intestine Small	intestine
5	chr2:234620400-234622200	Strong transcription	NHEK	skin
6	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
7	chr2:234620600-234622200	Weak transcription	Pancreas	Pancrea
8	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
9	chr2:234620800-234621800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:234621400-234621800	ZNF genes & repeats	A549	lung
11	chr2:234621400-234625800	Weak transcription	Liver	Liver
12	chr2:234621600-234621800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:234621600-234622200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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