Variant report

Variant	rs55728562
Chromosome Location	chr12:56771043-56771044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56770713..56771688-chr12:56857841..56858767,2	MCF-7	breast:
2	chr12:56768554..56771381-chr12:56862406..56864579,2	K562	blood:
3	chr12:56769455..56772354-chr12:56856739..56859883,3	MCF-7	breast:
4	chr12:56770547..56772977-chr12:56775717..56777841,2	K562	blood:
5	chr12:56692610..56695000-chr12:56769639..56771585,2	K562	blood:

Variant related genes	Relation type
ENSG00000259099	Chromatin interaction
ENSG00000257303	Chromatin interaction
ENSG00000135517	Chromatin interaction
ENSG00000062485	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10876883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171812	1.00[EUR][1000 genomes]
rs11171818	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171819	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171822	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830379	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11833064	0.94[AFR][1000 genomes]
rs11835538	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12305578	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311878	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318887	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12322356	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28828444	0.80[AFR][1000 genomes]
rs55650630	0.83[AFR][1000 genomes]
rs55666835	1.00[EUR][1000 genomes]
rs55818846	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57387549	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59286728	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61522113	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324353	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73324358	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73324365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324378	0.81[AFR][1000 genomes]
rs7954200	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7960824	0.80[AFR][1000 genomes]
rs7969172	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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:23 , 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	chr12:56768200-56771400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:56768200-56771400	Enhancers	HepG2	liver
4	chr12:56769000-56771200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:56770200-56771200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:56770200-56771600	Enhancers	GM12878-XiMat	blood
7	chr12:56770200-56773000	Enhancers	Primary B cells from cord blood	blood
8	chr12:56770600-56772000	Flanking Active TSS	K562	blood
9	chr12:56770800-56771400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:56770800-56771400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:56770800-56771600	Enhancers	HUVEC	blood vessel
12	chr12:56770800-56772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:56770800-56780800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:56771000-56771200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:56771000-56771400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:56771000-56771400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:56771000-56771400	Enhancers	Spleen	Spleen
18	chr12:56771000-56771400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:56771000-56771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:56771000-56771600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:56771000-56771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:56771000-56771800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr12:56771000-56772000	Enhancers	H1 Cell Line	embryonic stem cell

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