Variant report

Variant	rs73313485
Chromosome Location	chr12:64244527-64244528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64243123..64244682-chr12:64261360..64263267,2	MCF-7	breast:
2	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:
3	chr12:64235116..64240404-chr12:64242494..64248805,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58322492	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313488	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313492	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315336	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
8	esv1797043	chr12:64237504-64256568	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
9	esv1833454	chr12:64237504-64264837	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64240400-64247400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:64240600-64244600	Enhancers	Fetal Intestine Large	intestine
3	chr12:64240600-64245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:64240600-64246000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:64240800-64245000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
7	chr12:64241000-64245800	Weak transcription	Pancreas	Pancrea
8	chr12:64241000-64247000	Weak transcription	HepG2	liver
9	chr12:64241000-64247400	Weak transcription	Ovary	ovary
10	chr12:64241000-64251800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
12	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:64241000-64256000	Weak transcription	HSMM	muscle
14	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:64241000-64268800	Weak transcription	Lung	lung
17	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
18	chr12:64241800-64244600	Enhancers	Fetal Intestine Small	intestine
19	chr12:64242000-64244800	Enhancers	Brain Anterior Caudate	brain
20	chr12:64242200-64245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:64242200-64245800	Weak transcription	Right Ventricle	heart
22	chr12:64242200-64246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:64243000-64251200	Weak transcription	NHLF	lung
24	chr12:64243400-64247800	Enhancers	Fetal Brain Male	brain
25	chr12:64243400-64263000	Weak transcription	NHEK	skin
26	chr12:64243600-64256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:64243800-64244600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:64243800-64251400	Weak transcription	Osteobl	bone
29	chr12:64244000-64247200	Weak transcription	Fetal Kidney	kidney
30	chr12:64244000-64247400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:64244000-64247400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:64244000-64250200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:64244000-64250200	Weak transcription	NHDF-Ad	bronchial
34	chr12:64244000-64250400	Weak transcription	Hela-S3	cervix
35	chr12:64244000-64251600	Weak transcription	HMEC	breast
36	chr12:64244000-64256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:64244000-64263600	Weak transcription	Fetal Lung	lung
38	chr12:64244200-64244600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:64244200-64244600	Enhancers	A549	lung
40	chr12:64244200-64245000	Weak transcription	Brain Germinal Matrix	brain
41	chr12:64244200-64245600	Weak transcription	Fetal Brain Female	brain
42	chr12:64244200-64245800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:64244200-64246000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:64244200-64246000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:64244200-64246200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:64244200-64250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:64244200-64251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:64244200-64251600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:64244400-64247400	Weak transcription	Brain Substantia Nigra	brain
50	chr12:64244400-64247800	Weak transcription	Brain Hippocampus Middle	brain

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