Variant report

Variant	rs72930775
Chromosome Location	chr2:86027998-86027999
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85986182..85989122-chr2:86027454..86030247,2	MCF-7	breast:
2	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
3	chr2:86001369..86004244-chr2:86027552..86029124,2	MCF-7	breast:
4	chr2:86025368..86028290-chr2:86031457..86033472,3	MCF-7	breast:
5	chr2:85863132..85864782-chr2:86027607..86030371,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction
ENSG00000168883	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs59512984	1.00[AMR][1000 genomes]
rs72928927	1.00[AMR][1000 genomes]
rs72928930	1.00[AMR][1000 genomes]
rs72928931	1.00[AMR][1000 genomes]
rs72928941	1.00[AMR][1000 genomes]
rs72928947	1.00[AMR][1000 genomes]
rs72928948	1.00[AMR][1000 genomes]
rs72928951	1.00[AMR][1000 genomes]
rs72928954	1.00[AMR][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	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86020000-86028200	Enhancers	Liver	Liver
2	chr2:86022400-86033800	Weak transcription	Gastric	stomach
3	chr2:86023000-86033800	Weak transcription	Pancreas	Pancrea
4	chr2:86024200-86028200	Weak transcription	HUVEC	blood vessel
5	chr2:86024400-86028200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:86024400-86037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:86024400-86037600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:86024600-86028200	Weak transcription	Aorta	Aorta
9	chr2:86024600-86043600	Weak transcription	Right Ventricle	heart
10	chr2:86024800-86028000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:86024800-86030200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:86024800-86038000	Weak transcription	Ovary	ovary
13	chr2:86025400-86028000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:86025400-86031600	Weak transcription	HSMM	muscle
15	chr2:86025400-86037600	Weak transcription	Right Atrium	heart
16	chr2:86026200-86028000	Enhancers	Hela-S3	cervix
17	chr2:86026800-86029600	Weak transcription	Psoas Muscle	Psoas
18	chr2:86026800-86029800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:86027000-86029800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:86027000-86038000	Weak transcription	Left Ventricle	heart
21	chr2:86027200-86037600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:86027600-86028200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:86027600-86028600	ZNF genes & repeats	Fetal Lung	lung
24	chr2:86027600-86028800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:86027800-86028000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:86027800-86028400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr2:86027800-86028600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:86027800-86028600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:86027800-86028600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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