Variant report

Variant	rs11052134
Chromosome Location	chr12:32810539-32810540
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	chr12:32608205..32609405-chr12:32809972..32811167,5	MCF-7	breast:
2	chr12:32608220..32609107-chr12:32810225..32811108,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10506100	1.00[JPT][hapmap]
rs11052113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052115	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299270	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299979	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12307858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12312688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12312968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12314569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12322190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12366836	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579412	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12580531	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12815754	1.00[ASN][1000 genomes]
rs12821132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16920101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16920249	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17539491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17539792	1.00[CHB][hapmap]
rs17539848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17543624	1.00[JPT][hapmap]
rs1869652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1995226	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1995227	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2133543	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34032717	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4575368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55891447	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56331606	0.90[ASN][1000 genomes]
rs56373028	1.00[ASN][1000 genomes]
rs67215596	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67335394	0.81[ASN][1000 genomes]
rs67573810	1.00[ASN][1000 genomes]
rs7301619	1.00[JPT][hapmap]
rs7302961	0.81[ASN][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	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11052134	H3F3C	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32793600-32810800	Weak transcription	Ovary	ovary
3	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
4	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:32794800-32812200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:32797000-32812200	Weak transcription	Adipose Nuclei	Adipose
8	chr12:32799600-32810800	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32799600-32812000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:32799600-32812200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:32799600-32812800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:32799600-32813000	Weak transcription	Left Ventricle	heart
13	chr12:32799600-32813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:32810000-32810600	Enhancers	Psoas Muscle	Psoas
15	chr12:32810400-32810600	Enhancers	HepG2	liver
16	chr12:32810400-32811000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:32810400-32811000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:32810400-32811000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:32810400-32811000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:32810400-32811000	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:32810400-32811000	Enhancers	Fetal Muscle Leg	muscle
22	chr12:32810400-32811000	Enhancers	Fetal Thymus	thymus
23	chr12:32810400-32811000	Enhancers	HUVEC	blood vessel
24	chr12:32810400-32812800	Weak transcription	Gastric	stomach

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