Variant report

Variant	rs72862618
Chromosome Location	chr2:31518659-31518660
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	chr2:31517647..31520271-chr2:31522641..31525033,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13394366	1.00[EUR][1000 genomes]
rs583535	1.00[EUR][1000 genomes]
rs61610727	1.00[EUR][1000 genomes]
rs72862613	1.00[EUR][1000 genomes]
rs72862627	1.00[EUR][1000 genomes]
rs7600936	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31509200-31522000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31511200-31519000	Weak transcription	NH-A	brain
3	chr2:31511200-31523200	Weak transcription	HMEC	breast
4	chr2:31511400-31519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:31511600-31519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:31516200-31521000	Enhancers	Right Ventricle	heart
7	chr2:31516200-31521600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:31516400-31521000	Enhancers	Aorta	Aorta
9	chr2:31516600-31519200	Weak transcription	Lung	lung
10	chr2:31517000-31520800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:31517200-31522200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:31517400-31522200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:31517600-31520600	Enhancers	Esophagus	oesophagus
14	chr2:31517600-31521200	Enhancers	Left Ventricle	heart
15	chr2:31517600-31522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:31517600-31523200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:31517800-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:31517800-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:31518200-31518800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr2:31518400-31518800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:31518400-31521000	Enhancers	Psoas Muscle	Psoas
22	chr2:31518400-31521000	Enhancers	Right Atrium	heart
23	chr2:31518400-31521200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:31518600-31518800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:31518600-31518800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:31518600-31518800	Enhancers	Fetal Heart	heart
27	chr2:31518600-31518800	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:31518600-31520000	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:31518600-31520400	Enhancers	Adipose Nuclei	Adipose
30	chr2:31518600-31520400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:31518600-31520400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:31518600-31520600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:31518600-31521000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:31518600-31521400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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