Variant report

Variant	rs11068196
Chromosome Location	chr12:117250784-117250785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117211246..117213116-chr12:117248453..117251134,2	MCF-7	breast:
2	chr12:117217330..117219094-chr12:117250590..117252479,2	K562	blood:
3	chr12:117246891..117249993-chr12:117250425..117253317,3	K562	blood:
4	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
5	chr12:117249993..117252950-chr12:117255244..117258293,4	MCF-7	breast:
6	chr12:117248703..117251842-chr12:117252978..117255376,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11068194	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068195	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068201	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16946996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16947003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17582582	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016622	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766805	0.81[ASN][1000 genomes]
rs56036824	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57033312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58963573	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59935649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61442995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:117238000-117256200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:117238000-117256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:117238400-117255600	Enhancers	Fetal Thymus	thymus
13	chr12:117242000-117256200	Weak transcription	GM12878-XiMat	blood
14	chr12:117242200-117256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:117245400-117251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:117246800-117251000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:117247000-117255800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:117247000-117256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:117247200-117256000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:117248200-117256200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:117248400-117251000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:117248400-117251200	Weak transcription	Primary B cells from cord blood	blood
23	chr12:117248600-117251600	Weak transcription	Thymus	Thymus
24	chr12:117249000-117256200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:117249400-117256200	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:117249800-117251200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:117250000-117252000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:117250200-117251800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:117250600-117251200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:117250600-117251800	Enhancers	HMEC	breast
31	chr12:117250600-117252000	Enhancers	NHEK	skin

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