Variant report

Variant	rs72940180
Chromosome Location	chr2:86531426-86531427
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	chr2:86530903..86533565-chr2:86534462..86536704,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57195085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412282	0.93[AFR][1000 genomes]
rs58414682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58877226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59777974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61403853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86524200-86533600	Enhancers	Fetal Lung	lung
2	chr2:86524600-86533400	Enhancers	Fetal Muscle Leg	muscle
3	chr2:86525800-86540800	Weak transcription	Aorta	Aorta
4	chr2:86529400-86531800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:86529400-86535600	Weak transcription	Psoas Muscle	Psoas
6	chr2:86529400-86535600	Weak transcription	Right Ventricle	heart
7	chr2:86529400-86539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:86529600-86532400	Weak transcription	Left Ventricle	heart
9	chr2:86529600-86532400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:86529600-86532600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:86529600-86534600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:86529600-86535600	Weak transcription	Right Atrium	heart
13	chr2:86529800-86532000	Weak transcription	Fetal Heart	heart
14	chr2:86529800-86537200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:86530000-86531600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:86530000-86532400	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:86530000-86532400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:86530000-86537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:86530200-86531600	Weak transcription	Fetal Stomach	stomach
20	chr2:86530200-86532000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:86530200-86532200	Weak transcription	Fetal Brain Female	brain
22	chr2:86530200-86535800	Weak transcription	HSMMtube	muscle
23	chr2:86531200-86532600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:86531200-86533200	Enhancers	Brain Germinal Matrix	brain
25	chr2:86531400-86531600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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