Variant report

Variant	rs12225597
Chromosome Location	chr11:104338480-104338481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10732878	0.82[EUR][1000 genomes]
rs10736642	0.82[EUR][1000 genomes]
rs10750707	0.82[EUR][1000 genomes]
rs10791706	0.82[EUR][1000 genomes]
rs10791712	0.82[EUR][1000 genomes]
rs10791713	0.82[EUR][1000 genomes]
rs10791714	0.82[EUR][1000 genomes]
rs10791715	0.82[EUR][1000 genomes]
rs10791716	0.82[EUR][1000 genomes]
rs10895694	0.82[EUR][1000 genomes]
rs10895695	0.82[EUR][1000 genomes]
rs10895697	0.82[EUR][1000 genomes]
rs10895701	0.82[EUR][1000 genomes]
rs11226365	0.92[ASN][1000 genomes]
rs11226367	0.92[ASN][1000 genomes]
rs11226373	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226374	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226383	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11226386	0.82[EUR][1000 genomes]
rs11226387	0.82[EUR][1000 genomes]
rs11226392	0.82[EUR][1000 genomes]
rs11226400	0.82[EUR][1000 genomes]
rs11226401	0.82[EUR][1000 genomes]
rs11226402	0.82[EUR][1000 genomes]
rs11226403	0.82[EUR][1000 genomes]
rs11226404	0.82[EUR][1000 genomes]
rs11226406	0.82[EUR][1000 genomes]
rs11226407	0.82[EUR][1000 genomes]
rs11226409	0.82[EUR][1000 genomes]
rs12574112	0.82[EUR][1000 genomes]
rs1352283	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386663	0.82[EUR][1000 genomes]
rs1386666	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471922	0.82[EUR][1000 genomes]
rs1487681	0.82[EUR][1000 genomes]
rs1487683	0.82[EUR][1000 genomes]
rs1487692	0.82[EUR][1000 genomes]
rs1487694	0.82[EUR][1000 genomes]
rs1487700	0.82[EUR][1000 genomes]
rs1487701	0.82[EUR][1000 genomes]
rs1487702	0.82[EUR][1000 genomes]
rs1487703	0.82[EUR][1000 genomes]
rs1487704	0.82[EUR][1000 genomes]
rs1565127	0.82[EUR][1000 genomes]
rs1565128	0.82[EUR][1000 genomes]
rs1565130	0.82[EUR][1000 genomes]
rs1565131	0.82[EUR][1000 genomes]
rs1565132	0.82[EUR][1000 genomes]
rs1565133	0.82[EUR][1000 genomes]
rs17346834	0.82[EUR][1000 genomes]
rs1825823	0.82[EUR][1000 genomes]
rs1843942	0.82[EUR][1000 genomes]
rs1872884	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1906306	0.82[EUR][1000 genomes]
rs1906307	0.81[EUR][1000 genomes]
rs1906308	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046652	0.82[EUR][1000 genomes]
rs2101423	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2200615	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408942	0.82[EUR][1000 genomes]
rs3926217	0.82[EUR][1000 genomes]
rs4755042	0.82[EUR][1000 genomes]
rs4755043	0.82[EUR][1000 genomes]
rs57407156	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59704083	0.82[EUR][1000 genomes]
rs6421634	0.82[EUR][1000 genomes]
rs7106517	0.82[EUR][1000 genomes]
rs7119011	0.82[EUR][1000 genomes]
rs7119308	0.82[EUR][1000 genomes]
rs7120253	0.82[EUR][1000 genomes]
rs7121679	0.82[EUR][1000 genomes]
rs7122709	0.82[EUR][1000 genomes]
rs7131338	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926080	0.82[EUR][1000 genomes]
rs7930608	0.82[EUR][1000 genomes]
rs7939484	0.80[EUR][1000 genomes]
rs7943503	0.82[EUR][1000 genomes]
rs7944328	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931375	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760322	chr11:103760085-104374141	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1043976	chr11:103881236-104526403	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1040367	chr11:103956747-104440470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv898350	chr11:104261833-104372318	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv898351	chr11:104274535-104368709	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv898352	chr11:104274535-104452042	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv898353	chr11:104274535-104497607	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv428579	chr11:104298339-104459797	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv826071	chr11:104306259-104368241	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv898354	chr11:104309414-104417374	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1054278	chr11:104317164-104562129	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv556215	chr11:104328244-104366089	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1053886	chr11:104328822-104562129	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1037091	chr11:104330237-104559477	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv556216	chr11:104333651-104560789	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12225597	KIAA1826	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104338000-104339600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:104338200-104338600	Enhancers	Dnd41	blood
3	chr11:104338200-104338600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links