Variant report

Variant	rs12303188
Chromosome Location	chr12:49638324-49638325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49628427..49630609-chr12:49637819..49639701,2	MCF-7	breast:
2	chr12:49638300..49641624-chr12:49656914..49660164,4	MCF-7	breast:
3	chr12:49633760..49640540-chr12:49656677..49660210,10	MCF-7	breast:
4	chr12:49638137..49641048-chr12:49657465..49660850,5	K562	blood:
5	chr12:49638137..49641269-chr12:49657288..49661762,6	K562	blood:
6	chr12:49637551..49640407-chr12:49640802..49643677,3	K562	blood:
7	chr12:49637570..49639099-chr12:49647103..49649112,2	K562	blood:
8	chr12:49635417..49638399-chr12:49640493..49643287,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10047512	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10047588	0.89[AFR][1000 genomes]
rs11168928	0.87[YRI][hapmap]
rs11168931	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11168938	0.87[YRI][hapmap]
rs11168955	0.87[YRI][hapmap]
rs11830820	1.00[EUR][1000 genomes]
rs12296231	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12296536	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12297433	0.88[YRI][hapmap]
rs12304259	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12308782	0.82[AFR][1000 genomes]
rs12309028	0.87[YRI][hapmap]
rs12314967	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs12318666	0.85[YRI][hapmap]
rs12322876	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
3	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
4	chr12:49630600-49646800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:49637200-49639800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:49637200-49639800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:49637200-49639800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:49637200-49640200	Enhancers	HSMM	muscle
9	chr12:49637200-49640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:49637400-49639800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:49637600-49639600	Enhancers	NHLF	lung
12	chr12:49637600-49639800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:49637600-49639800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:49637600-49639800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:49637600-49639800	Enhancers	NHDF-Ad	bronchial
16	chr12:49637800-49638400	Weak transcription	HSMMtube	muscle
17	chr12:49637800-49640200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:49638000-49638400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:49638000-49638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:49638000-49638400	Enhancers	K562	blood
21	chr12:49638000-49638400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:49638000-49638400	Flanking Active TSS	NH-A	brain
23	chr12:49638000-49638400	Flanking Active TSS	Osteobl	bone
24	chr12:49638000-49638600	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:49638000-49638600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:49638000-49638800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:49638200-49638400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:49638200-49638600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:49638200-49638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:49638200-49639200	Weak transcription	Hela-S3	cervix

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