Variant report

Variant	rs12427756
Chromosome Location	chr13:110651455-110651456
allele	A/G
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	chr13:110651119..110651723-chr13:110726182..110726944,2	MCF-7	breast:
2	chr13:110521072..110521899-chr13:110651072..110651611,2	MCF-7	breast:
3	chr13:109571462..109572159-chr13:110651100..110651627,2	MCF-7	breast:
4	chr13:110624570..110627835-chr13:110649740..110653862,3	MCF-7	breast:
5	chr13:109568410..109572256-chr13:110650855..110652564,3	MCF-7	breast:
6	chr13:110436934..110441220-chr13:110649910..110655074,7	MCF-7	breast:
7	chr13:110648675..110651623-chr13:110654497..110656407,2	K562	blood:
8	chr13:110651354..110653633-chr13:110756277..110757904,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10450818	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11069818	0.81[AFR][1000 genomes]
rs11616850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616866	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617996	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11618044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11619058	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11619827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3995573	0.83[AFR][1000 genomes]
rs4773106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832719	chr13:110512259-110655883	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1049593	chr13:110615494-110725945	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1842097	chr13:110644990-110680944	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110649200-110652600	Enhancers	Liver	Liver
2	chr13:110649800-110652600	Enhancers	Adipose Nuclei	Adipose
3	chr13:110649800-110654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:110649800-110655000	Enhancers	Hela-S3	cervix
5	chr13:110650400-110651600	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:110650400-110652200	Enhancers	Fetal Kidney	kidney
7	chr13:110650400-110655000	Enhancers	HMEC	breast
8	chr13:110650600-110651600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:110650600-110651600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:110650600-110652600	Enhancers	NHEK	skin
11	chr13:110650800-110651800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:110650800-110651800	Enhancers	NH-A	brain
13	chr13:110650800-110652600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:110650800-110655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:110651000-110651600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:110651000-110652000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:110651000-110652200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr13:110651000-110654400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:110651000-110654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:110651200-110651600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:110651200-110651600	Active TSS	A549	lung
22	chr13:110651200-110652000	Enhancers	HSMM	muscle
23	chr13:110651400-110651600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:110651400-110651800	Enhancers	Fetal Brain Male	brain
25	chr13:110651400-110651800	Enhancers	Osteobl	bone
26	chr13:110651400-110652000	Enhancers	NHDF-Ad	bronchial
27	chr13:110651400-110652000	Enhancers	NHLF	lung
28	chr13:110651400-110652200	Enhancers	Brain Hippocampus Middle	brain
29	chr13:110651400-110652400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:110651400-110652600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr13:110651400-110653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:110651400-110653400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:110651400-110653600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:110651400-110653600	Enhancers	Placenta	Placenta
35	chr13:110651400-110654000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr13:110651400-110655000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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