Variant report

Variant	rs10267633
Chromosome Location	chr7:105036690-105036691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105027932..105031943-chr7:105036648..105042469,7	K562	blood:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10224564	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10228503	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10230128	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10235252	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10240574	0.89[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10248422	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10248954	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10252295	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10253496	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10255779	0.84[ASN][1000 genomes]
rs10258841	1.00[CEU][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10259721	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10261613	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10261738	0.84[ASN][1000 genomes]
rs10261782	0.85[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10269989	0.84[JPT][hapmap]
rs10272634	0.84[ASN][1000 genomes]
rs10276153	0.84[ASN][1000 genomes]
rs10953473	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs11764361	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11769318	0.80[EUR][1000 genomes]
rs12669532	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705305	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13223001	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13246886	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17721991	0.83[GIH][hapmap]
rs1917047	0.85[CHB][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs1978201	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap]
rs2237615	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs2237616	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs2237618	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2237619	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs2237620	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs2286124	0.82[ASN][1000 genomes]
rs2299313	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs2299320	0.81[CHD][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap]
rs2299326	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs2385542	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap]
rs2385556	0.86[ASN][1000 genomes]
rs28461911	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28823350	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34003298	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34154773	0.86[ASN][1000 genomes]
rs34717863	0.84[ASN][1000 genomes]
rs34789097	0.86[ASN][1000 genomes]
rs35442357	0.82[EUR][1000 genomes]
rs35993922	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779208	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs3779209	0.81[EUR][1000 genomes]
rs3801283	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs4610671	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4727622	0.81[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727623	0.84[JPT][hapmap]
rs4730078	0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60446665	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs717352	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs725506	0.90[JPT][hapmap]
rs73188303	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73188305	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73188321	0.95[ASN][1000 genomes]
rs8180735	0.82[EUR][1000 genomes]
rs8180737	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs9641343	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9641345	0.85[CHB][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs9641347	0.80[EUR][1000 genomes]
rs9641348	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv888934	chr7:105016900-105056010	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv3436858	chr7:105017550-105044209	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10267633	GLI3	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105030000-105038000	Weak transcription	Right Atrium	heart
2	chr7:105030400-105039000	Weak transcription	HepG2	liver
3	chr7:105036600-105036800	Enhancers	K562	blood

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