Variant report

Variant	rs1109811
Chromosome Location	chr12:49651243-49651244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49644570..49652021-chr12:49657020..49661422,19	MCF-7	breast:
2	chr12:49650187..49651946-chr12:49687678..49689574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10047512	1.00[AMR][1000 genomes]
rs10047588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168925	1.00[AMR][1000 genomes]
rs11168927	1.00[AMR][1000 genomes]
rs11168928	1.00[AMR][1000 genomes]
rs11168931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168942	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168956	0.86[AFR][1000 genomes]
rs11168957	0.86[AFR][1000 genomes]
rs11168958	0.86[AFR][1000 genomes]
rs12296231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297433	1.00[AMR][1000 genomes]
rs12300386	1.00[AMR][1000 genomes]
rs12300998	1.00[AMR][1000 genomes]
rs12304259	1.00[AMR][1000 genomes]
rs12304483	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304746	1.00[AMR][1000 genomes]
rs12308571	0.86[AFR][1000 genomes]
rs12308782	0.89[AFR][1000 genomes]
rs12309028	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318666	1.00[AMR][1000 genomes]
rs12322876	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758893	1.00[AMR][1000 genomes]
rs9804936	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
3	chr12:49639600-49654000	Weak transcription	NHLF	lung
4	chr12:49639800-49653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:49639800-49653200	Weak transcription	NHDF-Ad	bronchial
6	chr12:49639800-49653200	Weak transcription	Osteobl	bone
7	chr12:49639800-49653400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:49640200-49653000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:49645600-49654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:49647200-49653200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:49647200-49653200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:49647200-49653200	Weak transcription	NHEK	skin
13	chr12:49647400-49653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:49647400-49654600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:49648600-49651400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:49649000-49653400	Weak transcription	A549	lung
17	chr12:49650000-49657200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:49650000-49658000	Weak transcription	Right Atrium	heart
19	chr12:49650200-49653600	Weak transcription	Hela-S3	cervix
20	chr12:49650200-49654400	Weak transcription	Placenta	Placenta
21	chr12:49650400-49652200	Enhancers	K562	blood
22	chr12:49650600-49652000	Enhancers	HepG2	liver
23	chr12:49650600-49653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:49651000-49651600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:49651000-49651600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:49651000-49652200	Strong transcription	Fetal Brain Female	brain
27	chr12:49651200-49653200	Weak transcription	Ovary	ovary

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