Variant report

Variant	rs72940175
Chromosome Location	chr2:86529625-86529626
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	chr2:86528161..86530065-chr2:86667250..86669101,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

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]
rs72940180	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86524200-86530000	Enhancers	Brain Hippocampus Middle	brain
2	chr2:86524200-86530200	Enhancers	Colon Smooth Muscle	Colon
3	chr2:86524200-86533600	Enhancers	Fetal Lung	lung
4	chr2:86524600-86533400	Enhancers	Fetal Muscle Leg	muscle
5	chr2:86524800-86530200	Enhancers	Brain Angular Gyrus	brain
6	chr2:86525000-86530200	Enhancers	HSMMtube	muscle
7	chr2:86525200-86530200	Enhancers	Brain Germinal Matrix	brain
8	chr2:86525600-86530200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:86525800-86530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:86525800-86530200	Enhancers	Fetal Brain Female	brain
11	chr2:86525800-86540800	Weak transcription	Aorta	Aorta
12	chr2:86526400-86529800	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:86526400-86530000	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:86526400-86530200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:86527000-86530200	Enhancers	Fetal Stomach	stomach
16	chr2:86527400-86530000	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:86528000-86529800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:86528000-86530000	Enhancers	HSMM	muscle
19	chr2:86528600-86529800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:86528600-86530000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:86528800-86529800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:86529000-86529800	Enhancers	Adipose Nuclei	Adipose
23	chr2:86529200-86529800	Bivalent Enhancer	NHLF	lung
24	chr2:86529200-86531200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:86529400-86529800	Enhancers	Fetal Heart	heart
26	chr2:86529400-86531000	Weak transcription	Fetal Brain Male	brain
27	chr2:86529400-86531000	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:86529400-86531800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:86529400-86535600	Weak transcription	Psoas Muscle	Psoas
30	chr2:86529400-86535600	Weak transcription	Right Ventricle	heart
31	chr2:86529400-86539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:86529600-86532400	Weak transcription	Left Ventricle	heart
33	chr2:86529600-86532400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:86529600-86532600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:86529600-86534600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:86529600-86535600	Weak transcription	Right Atrium	heart

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