Variant report

Variant	rs10226418
Chromosome Location	chr7:3146412-3146413
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10231401	0.86[ASN][1000 genomes]
rs10236373	0.85[ASN][1000 genomes]
rs1073076	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760892	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11762425	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11763176	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11763696	0.97[ASN][1000 genomes]
rs11765292	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11765379	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11767716	0.82[CHD][hapmap]
rs11772367	0.85[ASN][1000 genomes]
rs11773149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773451	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112365	0.85[ASN][1000 genomes]
rs12535865	0.92[ASN][1000 genomes]
rs1872880	0.84[AFR][1000 genomes]
rs1872881	0.83[AFR][1000 genomes]
rs35070569	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4719791	0.82[ASN][1000 genomes]
rs4719801	0.92[ASN][1000 genomes]
rs4722424	0.88[ASN][1000 genomes]
rs61693702	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62439137	0.85[ASN][1000 genomes]
rs6461838	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs68071183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6943837	0.87[ASN][1000 genomes]
rs6943988	0.87[ASN][1000 genomes]
rs6958161	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs717535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784577	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7786349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7787404	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7787445	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1020680	chr7:3125512-3204521	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1027945	chr7:3125512-3208071	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1015656	chr7:3131821-3321353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1023566	chr7:3134090-3159323	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv464262	chr7:3134593-3155813	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv605876	chr7:3134593-3155813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv605877	chr7:3134593-3157702	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1027009	chr7:3141609-3311344	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv538658	chr7:3141609-3311344	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10226418	MMD2	cis	cerebellum	SCAN
rs10226418	RADIL	cis	cerebellum	SCAN
rs10226418	APBB2	trans	cerebellum	SCAN
rs10226418	KDELR2	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3141400-3148000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr7:3142000-3156200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:3144200-3148000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:3144200-3152200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:3144800-3146800	Enhancers	Aorta	Aorta
6	chr7:3145400-3147400	Enhancers	Pancreas	Pancrea
7	chr7:3145400-3148200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:3145600-3146800	Enhancers	Fetal Thymus	thymus
9	chr7:3145600-3147800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:3145600-3148000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:3145600-3148000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:3145600-3148000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:3145800-3147800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:3145800-3148200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:3146000-3147800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:3146000-3148200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:3146200-3146600	Enhancers	Primary T cells from cord blood	blood
18	chr7:3146200-3147800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr7:3146400-3147000	Enhancers	Primary B cells from cord blood	blood

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