Variant report

Variant	rs61927720
Chromosome Location	chr12:47584775-47584776
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47498470..47501746-chr12:47583705..47586367,3	MCF-7	breast:
2	chr12:47583159..47586380-chr12:47586604..47590176,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17097704	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17097720	0.82[AMR][1000 genomes]
rs61927723	0.96[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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47578200-47587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:47580800-47585600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:47581000-47585800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47582000-47585400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:47582200-47584800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:47582200-47584800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:47582200-47584800	Enhancers	K562	blood
9	chr12:47582200-47585000	Enhancers	NH-A	brain
10	chr12:47582200-47585000	Enhancers	Osteobl	bone
11	chr12:47582200-47585400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:47582200-47585600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:47582400-47584800	Enhancers	Left Ventricle	heart
14	chr12:47582400-47584800	Enhancers	HSMM	muscle
15	chr12:47582400-47585200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:47582400-47585400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:47582400-47585400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:47582400-47585400	Enhancers	NHEK	skin
19	chr12:47582600-47584800	Flanking Active TSS	A549	lung
20	chr12:47582600-47585400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:47582800-47584800	Genic enhancers	Primary B cells from cord blood	blood
22	chr12:47582800-47584800	Enhancers	Colon Smooth Muscle	Colon
23	chr12:47582800-47584800	Enhancers	HSMMtube	muscle
24	chr12:47582800-47585000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:47582800-47585400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:47582800-47585800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:47583000-47584800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:47583000-47585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:47583200-47584800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:47583200-47584800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:47583200-47585000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:47583200-47585000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:47583200-47587200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:47583200-47587600	Weak transcription	Pancreas	Pancrea
35	chr12:47583200-47588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:47583200-47589200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
38	chr12:47583400-47584800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:47583400-47585200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:47583400-47588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:47583400-47588400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:47583600-47584800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:47583600-47585400	Enhancers	HMEC	breast
44	chr12:47583600-47585600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:47583800-47585000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:47583800-47585200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr12:47583800-47585200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:47583800-47585200	Weak transcription	Colonic Mucosa	Colon
49	chr12:47583800-47585200	Weak transcription	Small Intestine	intestine
50	chr12:47583800-47587600	Weak transcription	Lung	lung

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