Variant report

Variant	rs73225027
Chromosome Location	chr12:121134572-121134573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121122674..121127779-chr12:121131254..121137297,11	MCF-7	breast:
2	chr12:121132775..121135777-chr12:121136647..121140338,4	MCF-7	breast:
3	chr12:121133471..121136112-chr12:121146959..121149468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12424591	0.95[ASN][1000 genomes]
rs12425951	0.95[ASN][1000 genomes]
rs12426170	0.95[ASN][1000 genomes]
rs35014778	0.95[ASN][1000 genomes]
rs3751163	0.95[ASN][1000 genomes]
rs476676	0.95[ASN][1000 genomes]
rs510900	0.95[ASN][1000 genomes]
rs547245	0.95[ASN][1000 genomes]
rs55660947	0.90[EUR][1000 genomes]
rs56091449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57860907	0.91[ASN][1000 genomes]
rs59902644	0.95[ASN][1000 genomes]
rs644065	0.95[ASN][1000 genomes]
rs696335	0.95[ASN][1000 genomes]
rs696336	0.95[ASN][1000 genomes]
rs696338	0.95[ASN][1000 genomes]
rs71454659	0.95[ASN][1000 genomes]
rs73222802	0.95[ASN][1000 genomes]
rs73225008	0.95[ASN][1000 genomes]
rs73225010	0.95[ASN][1000 genomes]
rs73225016	0.95[ASN][1000 genomes]
rs73225017	0.95[ASN][1000 genomes]
rs73225023	0.96[EUR][1000 genomes]
rs73225026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225031	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8295	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121127600-121147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121127800-121135000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121130200-121143000	Strong transcription	Dnd41	blood
4	chr12:121130200-121143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121130400-121135800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:121130400-121136200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr12:121130400-121136400	Strong transcription	Primary B cells from cord blood	blood
8	chr12:121130600-121136000	Genic enhancers	Fetal Intestine Large	intestine
9	chr12:121130600-121136000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:121130600-121141800	Strong transcription	NHEK	skin
11	chr12:121130600-121142000	Strong transcription	Fetal Stomach	stomach
12	chr12:121130600-121142400	Strong transcription	GM12878-XiMat	blood
13	chr12:121130600-121143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:121130800-121135600	Strong transcription	Spleen	Spleen
15	chr12:121130800-121136000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:121130800-121136000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:121130800-121140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:121130800-121140400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:121130800-121141600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:121130800-121141800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:121130800-121141800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:121130800-121141800	Strong transcription	Thymus	Thymus
23	chr12:121130800-121142000	Strong transcription	Osteobl	bone
24	chr12:121130800-121142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:121131000-121135600	Strong transcription	Aorta	Aorta
27	chr12:121131000-121139800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:121131000-121141200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:121131000-121141600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:121131000-121142400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:121131200-121135000	Weak transcription	Right Atrium	heart
32	chr12:121131200-121136000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:121131200-121136200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:121131200-121136200	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:121131200-121137400	Strong transcription	Gastric	stomach
36	chr12:121131200-121141400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:121131200-121141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:121131200-121141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:121131200-121142000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
41	chr12:121131400-121136400	Strong transcription	Pancreas	Pancrea
42	chr12:121131400-121140200	Strong transcription	K562	blood
43	chr12:121131400-121141000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr12:121131400-121141800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:121131400-121142200	Strong transcription	Primary T cells from cord blood	blood
46	chr12:121131600-121136400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:121131600-121136600	Strong transcription	NHDF-Ad	bronchial
48	chr12:121131600-121138200	Strong transcription	Hela-S3	cervix
49	chr12:121131600-121140000	Strong transcription	Ovary	ovary
50	chr12:121131600-121141200	Strong transcription	Brain Inferior Temporal Lobe	brain

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