Variant report

Variant	rs11830379
Chromosome Location	chr12:56771576-56771577
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56771104..56771942-chr12:56857778..56858699,2	K562	blood:
2	chr12:56770713..56771688-chr12:56857841..56858767,2	MCF-7	breast:
3	chr12:56769455..56772354-chr12:56856739..56859883,3	MCF-7	breast:
4	chr12:56763856..56766756-chr12:56771445..56772997,2	K562	blood:
5	chr12:56771075..56772732-chr12:56831499..56834377,2	K562	blood:
6	chr12:56770547..56772977-chr12:56775717..56777841,2	K562	blood:
7	chr12:56692610..56695000-chr12:56769639..56771585,2	K562	blood:

Variant related genes	Relation type
ENSG00000259099	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000062485	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10876883	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10876885	1.00[EUR][1000 genomes]
rs11171818	0.93[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171819	0.93[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171823	0.87[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11575221	1.00[EUR][1000 genomes]
rs11575236	1.00[EUR][1000 genomes]
rs11832580	1.00[EUR][1000 genomes]
rs11833064	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834948	1.00[EUR][1000 genomes]
rs12305578	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12306512	1.00[EUR][1000 genomes]
rs12311878	0.87[ASW][hapmap];0.93[LWK][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12318887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs17118590	1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs28828444	0.81[AMR][1000 genomes]
rs4301822	1.00[EUR][1000 genomes]
rs55650630	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55728562	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs55818846	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57387549	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59286728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61522113	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs61733875	1.00[EUR][1000 genomes]
rs6581093	1.00[EUR][1000 genomes]
rs7131916	0.81[AMR][1000 genomes]
rs72478990	1.00[EUR][1000 genomes]
rs73324353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324365	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73324376	0.81[AMR][1000 genomes]
rs73324378	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73324389	0.81[AMR][1000 genomes]
rs73324402	0.81[AMR][1000 genomes]
rs74094726	1.00[EUR][1000 genomes]
rs7954200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960824	0.81[AMR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7969172	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7977692	1.00[EUR][1000 genomes]
rs7979812	1.00[MEX][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56767400-56773600	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:56770200-56771600	Enhancers	GM12878-XiMat	blood
3	chr12:56770200-56773000	Enhancers	Primary B cells from cord blood	blood
4	chr12:56770600-56772000	Flanking Active TSS	K562	blood
5	chr12:56770800-56771600	Enhancers	HUVEC	blood vessel
6	chr12:56770800-56772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:56770800-56780800	Weak transcription	Fetal Intestine Small	intestine
8	chr12:56771000-56771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:56771000-56771600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:56771000-56771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:56771000-56771800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr12:56771000-56772000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:56771200-56771800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:56771200-56771800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:56771200-56771800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:56771200-56772000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:56771400-56771800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:56771400-56771800	Flanking Active TSS	HepG2	liver
19	chr12:56771400-56775400	Weak transcription	H9 Cell Line	embryonic stem cell

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