Variant report

Variant	rs73057246
Chromosome Location	chr2:205416724-205416725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205409472..205412242-chr2:205415105..205417693,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59970517	0.81[AFR][1000 genomes]
rs73057257	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73057260	0.81[AFR][1000 genomes]
rs73057264	0.81[AFR][1000 genomes]
rs73057286	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411400-205416800	Weak transcription	Pancreas	Pancrea
2	chr2:205411600-205417000	Weak transcription	Psoas Muscle	Psoas
3	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
5	chr2:205411800-205419400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:205412000-205417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
9	chr2:205412400-205417600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:205413200-205417200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:205413600-205417000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:205414400-205417200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:205414600-205416800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:205415000-205417200	Enhancers	Fetal Stomach	stomach
15	chr2:205415400-205416800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:205415400-205417000	Enhancers	Stomach Mucosa	stomach
17	chr2:205415400-205417200	Enhancers	Fetal Intestine Small	intestine
18	chr2:205415400-205417400	Enhancers	HSMMtube	muscle
19	chr2:205415600-205417000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:205415600-205417000	Enhancers	Fetal Intestine Large	intestine
21	chr2:205415600-205417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:205415600-205417200	Enhancers	Ovary	ovary
23	chr2:205415800-205416800	Enhancers	Small Intestine	intestine
24	chr2:205415800-205416800	Enhancers	NHDF-Ad	bronchial
25	chr2:205415800-205417000	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:205416000-205417000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:205416000-205419000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:205416200-205416800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:205416200-205420800	Weak transcription	HSMM	muscle
30	chr2:205416400-205428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:205416600-205416800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:205416600-205427000	Weak transcription	Fetal Lung	lung

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