Variant report

Variant	rs2286190
Chromosome Location	chr7:84689993-84689994
allele	A/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	chr7:84689976-84690035	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84689168..84690751-chr7:84693182..84694886,2	K562	blood:

Variant related genes	Relation type
SEMA3D	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1016027	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10225455	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10231441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10237102	0.84[EUR][1000 genomes]
rs10244898	0.81[EUR][1000 genomes]
rs10260131	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10261725	0.96[CEU][hapmap];0.89[GIH][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs10268216	0.81[EUR][1000 genomes]
rs10271823	0.81[EUR][1000 genomes]
rs10277834	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10281252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10486845	1.00[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs10486847	0.85[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs11760335	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11771699	0.95[EUR][1000 genomes]
rs11980498	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11980984	0.84[EUR][1000 genomes]
rs11982720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12112643	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12113270	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154971	0.84[EUR][1000 genomes]
rs12155292	0.84[EUR][1000 genomes]
rs12707691	0.82[EUR][1000 genomes]
rs12707692	0.83[EUR][1000 genomes]
rs12707693	0.81[EUR][1000 genomes]
rs12707695	0.83[EUR][1000 genomes]
rs12707696	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13231019	0.82[EUR][1000 genomes]
rs13231340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13232515	0.81[EUR][1000 genomes]
rs13232613	0.81[EUR][1000 genomes]
rs13233871	0.83[EUR][1000 genomes]
rs13234489	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13234914	0.83[EUR][1000 genomes]
rs13240751	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13242253	0.94[EUR][1000 genomes]
rs13244179	0.81[EUR][1000 genomes]
rs13307855	0.81[EUR][1000 genomes]
rs1468396	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1528621	0.81[EUR][1000 genomes]
rs17558957	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17559084	1.00[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs17559978	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17639510	0.84[EUR][1000 genomes]
rs17639600	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1919282	0.83[EUR][1000 genomes]
rs2040954	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040957	0.92[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2103312	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2141415	0.81[EUR][1000 genomes]
rs2158727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2178236	0.81[EUR][1000 genomes]
rs2190211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190213	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286189	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2372503	0.80[EUR][1000 genomes]
rs2372510	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2372511	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28819164	0.80[EUR][1000 genomes]
rs34004921	0.83[EUR][1000 genomes]
rs34134012	0.81[EUR][1000 genomes]
rs34462522	0.81[EUR][1000 genomes]
rs34584772	0.81[EUR][1000 genomes]
rs34931062	0.84[EUR][1000 genomes]
rs34996468	0.83[EUR][1000 genomes]
rs35003658	0.84[EUR][1000 genomes]
rs35367762	0.94[EUR][1000 genomes]
rs35449238	0.81[EUR][1000 genomes]
rs35600623	0.83[EUR][1000 genomes]
rs35826544	0.83[EUR][1000 genomes]
rs35853835	0.83[EUR][1000 genomes]
rs35948002	0.93[EUR][1000 genomes]
rs4141132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4560742	0.81[EUR][1000 genomes]
rs56039102	0.84[EUR][1000 genomes]
rs57531424	0.84[EUR][1000 genomes]
rs59006756	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62472087	0.81[EUR][1000 genomes]
rs62472088	0.81[EUR][1000 genomes]
rs62472110	0.84[EUR][1000 genomes]
rs62472151	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468010	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6959903	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6962714	0.81[EUR][1000 genomes]
rs6965396	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs713153	0.81[EUR][1000 genomes]
rs713154	0.83[EUR][1000 genomes]
rs71560707	0.81[EUR][1000 genomes]
rs7776699	0.81[EUR][1000 genomes]
rs7777682	0.81[EUR][1000 genomes]
rs7780675	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7788896	0.83[EUR][1000 genomes]
rs7790637	0.81[EUR][1000 genomes]
rs7790809	0.81[EUR][1000 genomes]
rs7793649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7794144	0.81[EUR][1000 genomes]
rs7794619	0.81[EUR][1000 genomes]
rs7794920	0.83[EUR][1000 genomes]
rs7800072	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7801626	0.80[EUR][1000 genomes]
rs7803548	0.83[EUR][1000 genomes]
rs7806400	0.96[CEU][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap]
rs7807283	0.81[EUR][1000 genomes]
rs7809383	0.83[EUR][1000 genomes]
rs9642196	0.81[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	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1032610	chr7:84683282-84725413	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84656200-84694800	Weak transcription	Fetal Stomach	stomach
2	chr7:84676400-84694800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:84679200-84692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:84680400-84694600	Weak transcription	Fetal Kidney	kidney
5	chr7:84684000-84700000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:84684400-84695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:84685800-84695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:84687400-84695200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:84689400-84690000	Enhancers	Fetal Heart	heart
10	chr7:84689800-84690000	Enhancers	Aorta	Aorta
11	chr7:84689800-84690000	Enhancers	Spleen	Spleen
12	chr7:84689800-84692200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links