Variant report

Variant	rs56091449
Chromosome Location	chr12:121136040-121136041
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:
4	chr12:121133471..121136112-chr12:121146959..121149468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175970	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000110917	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]
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225031	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8295	0.91[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	chr12:121130200-121143000	Strong transcription	Dnd41	blood
3	chr12:121130200-121143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121130400-121136200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr12:121130400-121136400	Strong transcription	Primary B cells from cord blood	blood
6	chr12:121130600-121141800	Strong transcription	NHEK	skin
7	chr12:121130600-121142000	Strong transcription	Fetal Stomach	stomach
8	chr12:121130600-121142400	Strong transcription	GM12878-XiMat	blood
9	chr12:121130600-121143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:121130800-121140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:121130800-121140400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:121130800-121141600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:121130800-121141800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:121130800-121141800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:121130800-121141800	Strong transcription	Thymus	Thymus
16	chr12:121130800-121142000	Strong transcription	Osteobl	bone
17	chr12:121130800-121142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:121131000-121139800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:121131000-121141200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:121131000-121141600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:121131000-121142400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:121131200-121136200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:121131200-121136200	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:121131200-121137400	Strong transcription	Gastric	stomach
26	chr12:121131200-121141400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:121131200-121141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:121131200-121141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:121131200-121142000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
31	chr12:121131400-121136400	Strong transcription	Pancreas	Pancrea
32	chr12:121131400-121140200	Strong transcription	K562	blood
33	chr12:121131400-121141000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr12:121131400-121141800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:121131400-121142200	Strong transcription	Primary T cells from cord blood	blood
36	chr12:121131600-121136400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr12:121131600-121136600	Strong transcription	NHDF-Ad	bronchial
38	chr12:121131600-121138200	Strong transcription	Hela-S3	cervix
39	chr12:121131600-121140000	Strong transcription	Ovary	ovary
40	chr12:121131600-121141200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr12:121131600-121141800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:121131600-121141800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:121131600-121141800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:121131600-121141800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr12:121131800-121136400	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:121131800-121137200	Strong transcription	Brain Substantia Nigra	brain
47	chr12:121131800-121137400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:121131800-121140400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr12:121131800-121140600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:121131800-121140800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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