Variant report

Variant	rs73409923
Chromosome Location	chr12:121136245-121136246
allele	A/G
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	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
3	chr12:121122826..121126231-chr12:121135368..121138328,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10849779	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11065208	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11065211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065230	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11829037	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12296423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1803508	0.98[ASN][1000 genomes]
rs3830155	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4559761	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55644516	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59358833	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59904018	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61229807	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490302	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs695950	0.87[ASN][1000 genomes]
rs7135915	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303170	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956685	0.89[EUR][1000 genomes]
rs7958698	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964228	0.86[ASN][1000 genomes]
rs7972583	0.91[ASN][1000 genomes]
rs7973907	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs949443	0.93[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	chr12:121130200-121143000	Strong transcription	Dnd41	blood
3	chr12:121130200-121143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121130400-121136400	Strong transcription	Primary B cells from cord blood	blood
5	chr12:121130600-121141800	Strong transcription	NHEK	skin
6	chr12:121130600-121142000	Strong transcription	Fetal Stomach	stomach
7	chr12:121130600-121142400	Strong transcription	GM12878-XiMat	blood
8	chr12:121130600-121143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:121130800-121140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121130800-121140400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:121130800-121141600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:121130800-121141800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:121130800-121141800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:121130800-121141800	Strong transcription	Thymus	Thymus
15	chr12:121130800-121142000	Strong transcription	Osteobl	bone
16	chr12:121130800-121142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:121131000-121139800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:121131000-121141200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:121131000-121141600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:121131000-121142400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:121131200-121137400	Strong transcription	Gastric	stomach
23	chr12:121131200-121141400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:121131200-121141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:121131200-121141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:121131200-121142000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
28	chr12:121131400-121136400	Strong transcription	Pancreas	Pancrea
29	chr12:121131400-121140200	Strong transcription	K562	blood
30	chr12:121131400-121141000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr12:121131400-121141800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:121131400-121142200	Strong transcription	Primary T cells from cord blood	blood
33	chr12:121131600-121136400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:121131600-121136600	Strong transcription	NHDF-Ad	bronchial
35	chr12:121131600-121138200	Strong transcription	Hela-S3	cervix
36	chr12:121131600-121140000	Strong transcription	Ovary	ovary
37	chr12:121131600-121141200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:121131600-121141800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:121131600-121141800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:121131600-121141800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:121131600-121141800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:121131800-121136400	Strong transcription	Brain Hippocampus Middle	brain
43	chr12:121131800-121137200	Strong transcription	Brain Substantia Nigra	brain
44	chr12:121131800-121137400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:121131800-121140400	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr12:121131800-121140600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:121131800-121140800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:121131800-121141600	Strong transcription	Brain Angular Gyrus	brain
49	chr12:121131800-121141600	Strong transcription	Colon Smooth Muscle	Colon
50	chr12:121131800-121141800	Strong transcription	Liver	Liver

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