Variant report

Variant	rs12819933
Chromosome Location	chr12:58705075-58705076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58693916..58695827-chr12:58703110..58705079,2	MCF-7	breast:
2	chr12:58702936..58706179-chr12:58735514..58738404,3	MCF-7	breast:
3	chr12:58704331..58705154-chr12:58735410..58735918,2	MCF-7	breast:
4	chr12:58695273..58697797-chr12:58704078..58705976,2	MCF-7	breast:
5	chr12:58704348..58706532-chr12:58924233..58926574,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12809368	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12811162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12814536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821169	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12821697	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12825103	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[YRI][hapmap]
rs12825241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827543	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827635	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12827699	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12827939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829681	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34720173	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35248874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35811474	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760197	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760198	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760202	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760203	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760205	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760206	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760207	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71432326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106012	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7958950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978543	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7979174	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv730	chr12:58698792-58759096	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58703000-58705600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:58703000-58705800	Enhancers	HMEC	breast
3	chr12:58703200-58705400	Enhancers	HSMM	muscle
4	chr12:58703200-58705600	Enhancers	NHEK	skin
5	chr12:58703400-58705800	Enhancers	NHDF-Ad	bronchial
6	chr12:58703600-58705400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:58703600-58705400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:58703600-58705800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:58703600-58706000	Enhancers	Osteobl	bone
10	chr12:58704200-58705400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:58704200-58705400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:58704400-58705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:58704400-58706200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:58704600-58705200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:58704600-58705400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:58704600-58705400	Flanking Active TSS	A549	lung
17	chr12:58704800-58705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:58704800-58705200	Enhancers	Adipose Nuclei	Adipose
19	chr12:58704800-58705200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr12:58704800-58705200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:58704800-58705200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:58704800-58705200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:58704800-58705200	Flanking Active TSS	NH-A	brain
24	chr12:58704800-58705400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:58704800-58705400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:58704800-58705400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:58704800-58705400	Flanking Active TSS	Hela-S3	cervix
28	chr12:58704800-58705400	Flanking Active TSS	HUVEC	blood vessel
29	chr12:58705000-58705200	Enhancers	Psoas Muscle	Psoas
30	chr12:58705000-58705400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:58705000-58705400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:58705000-58705400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:58705000-58705400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:58705000-58705400	Enhancers	Fetal Intestine Large	intestine
35	chr12:58705000-58705400	Enhancers	NHLF	lung
36	chr12:58705000-58705800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:58705000-58705800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:58705000-58708200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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