Variant report

Variant	rs73408793
Chromosome Location	chr12:120445468-120445469
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120443342..120446063-chr12:120447694..120450232,2	MCF-7	breast:
2	chr12:120426878..120429216-chr12:120443292..120445570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57194876	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59064739	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59676660	1.00[AMR][1000 genomes]
rs61313213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408782	1.00[AMR][1000 genomes]
rs73408791	1.00[AMR][1000 genomes]
rs73408794	1.00[AMR][1000 genomes]
rs73410805	1.00[AMR][1000 genomes]
rs73410815	1.00[AMR][1000 genomes]
rs73410818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410869	1.00[AMR][1000 genomes]
rs73410870	1.00[AMR][1000 genomes]
rs73410876	1.00[AMR][1000 genomes]
rs73410880	1.00[AMR][1000 genomes]
rs73410883	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120428600-120449800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:120428600-120453200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:120428800-120447800	Weak transcription	Gastric	stomach
4	chr12:120428800-120451400	Weak transcription	HMEC	breast
5	chr12:120428800-120451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:120429000-120450000	Weak transcription	Esophagus	oesophagus
7	chr12:120437800-120462400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:120438800-120451400	Weak transcription	A549	lung
9	chr12:120442200-120451400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:120443200-120446000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:120443200-120446400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:120443400-120446000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:120443400-120446400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:120443600-120446400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:120443800-120446000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:120443800-120446400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:120443800-120446600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:120444200-120445800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:120444200-120445800	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:120444400-120445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:120444400-120445800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:120444400-120446400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:120444400-120446400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:120444400-120446400	Enhancers	Fetal Thymus	thymus
25	chr12:120444800-120445800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:120444800-120445800	Enhancers	GM12878-XiMat	blood
27	chr12:120444800-120446200	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:120444800-120446200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:120444800-120447600	Weak transcription	Thymus	Thymus
30	chr12:120444800-120451200	Weak transcription	Hela-S3	cervix
31	chr12:120444800-120451400	Weak transcription	NHEK	skin
32	chr12:120445000-120445600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:120445000-120445600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:120445000-120445800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:120445000-120445800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:120445000-120446800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:120445000-120449200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:120445200-120445600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:120445200-120445600	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:120445200-120446000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:120445200-120446000	Enhancers	HepG2	liver
42	chr12:120445400-120445600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:120445400-120445600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr12:120445400-120445800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:120445400-120448800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:120445400-120449000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:120445400-120450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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