Variant report

Variant	rs11069228
Chromosome Location	chr12:119442492-119442493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11069232	0.84[AMR][1000 genomes]
rs12578696	0.92[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12580179	0.82[AMR][1000 genomes]
rs12580370	0.84[AMR][1000 genomes]
rs1405050	0.86[JPT][hapmap]
rs2393464	0.82[AMR][1000 genomes]
rs61937960	0.81[AMR][1000 genomes]
rs61937964	0.81[AMR][1000 genomes]
rs61937965	0.84[AMR][1000 genomes]
rs61937967	0.84[AMR][1000 genomes]
rs61937968	0.82[AMR][1000 genomes]
rs7306404	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3492952	chr12:119440561-119442925	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	esv3492974	chr12:119440612-119442895	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3492940	chr12:119440623-119442884	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3492963	chr12:119440633-119442844	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
8	esv3492985	chr12:119440693-119442817	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
9	nsv826526	chr12:119440794-119442757	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv826527	chr12:119440794-119442796	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
11	esv275551	chr12:119441638-119443713	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119428000-119443000	Weak transcription	Fetal Brain Male	brain
2	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:119440600-119443800	Enhancers	Brain Germinal Matrix	brain
4	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119441000-119442800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:119441000-119443200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:119441000-119445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:119441000-119446800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:119441200-119443000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:119441200-119443000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:119441400-119442800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:119441400-119443000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:119442000-119442600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:119442000-119442800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:119442000-119444200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:119442200-119443000	Enhancers	Fetal Lung	lung
19	chr12:119442200-119443200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:119442400-119444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:119442400-119444800	Enhancers	Fetal Brain Female	brain
22	chr12:119442400-119446400	Enhancers	Fetal Muscle Leg	muscle

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