Variant report

Variant	rs12451565
Chromosome Location	chr17:45301590-45301591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45300506..45304139-chr17:45304220..45308207,3	MCF-7	breast:
2	chr17:45296665..45298632-chr17:45300677..45303361,2	K562	blood:
3	chr17:45301138..45304100-chr17:45679746..45682538,3	K562	blood:

Variant related genes	Relation type
ENSG00000198336	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000252088	Chromatin interaction

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

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

rs_ID	r²[population]
rs11570480	1.00[AMR][1000 genomes]
rs11570491	1.00[AMR][1000 genomes]
rs11570533	1.00[AMR][1000 genomes]
rs11570574	1.00[AMR][1000 genomes]
rs12452020	1.00[AMR][1000 genomes]
rs8073803	1.00[AMR][1000 genomes]
rs8080037	1.00[AMR][1000 genomes]
rs8081278	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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45288400-45302000	Weak transcription	HSMM	muscle
2	chr17:45295600-45301800	Enhancers	Fetal Intestine Small	intestine
3	chr17:45296400-45304000	Enhancers	Stomach Mucosa	stomach
4	chr17:45296400-45305000	Enhancers	Spleen	Spleen
5	chr17:45297800-45302000	Weak transcription	Gastric	stomach
6	chr17:45298200-45302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:45298400-45302200	Weak transcription	NH-A	brain
8	chr17:45298400-45307000	Weak transcription	Fetal Lung	lung
9	chr17:45298400-45307400	Weak transcription	Fetal Brain Female	brain
10	chr17:45299200-45301800	Enhancers	Fetal Intestine Large	intestine
11	chr17:45299200-45302000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:45299200-45302800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:45299600-45302600	Enhancers	Left Ventricle	heart
14	chr17:45299600-45304200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr17:45299800-45302000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:45299800-45302000	Weak transcription	Small Intestine	intestine
17	chr17:45300000-45301600	ZNF genes & repeats	K562	blood
18	chr17:45300000-45302800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr17:45300000-45304000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:45300200-45302600	Enhancers	HUVEC	blood vessel
21	chr17:45300200-45304000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:45300200-45304200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:45300600-45302000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:45300600-45302200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr17:45300600-45302200	Enhancers	Fetal Heart	heart
26	chr17:45300600-45302600	Enhancers	Liver	Liver
27	chr17:45300800-45301800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45300800-45301800	Weak transcription	Hela-S3	cervix
29	chr17:45300800-45302000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:45300800-45302000	Weak transcription	Adipose Nuclei	Adipose
31	chr17:45300800-45302000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:45300800-45302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:45300800-45302000	Weak transcription	NHDF-Ad	bronchial
34	chr17:45300800-45302000	Weak transcription	Osteobl	bone
35	chr17:45300800-45302200	Weak transcription	Placenta	Placenta
36	chr17:45300800-45302200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr17:45300800-45302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:45301000-45302000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:45301000-45302000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr17:45301000-45302000	Weak transcription	Fetal Muscle Leg	muscle
41	chr17:45301000-45302000	Weak transcription	Pancreas	Pancrea
42	chr17:45301000-45302000	Weak transcription	Right Ventricle	heart
43	chr17:45301000-45302000	Weak transcription	NHLF	lung
44	chr17:45301000-45302200	Weak transcription	NHEK	skin
45	chr17:45301000-45302400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:45301000-45302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:45301000-45303400	Weak transcription	Fetal Kidney	kidney
48	chr17:45301000-45307000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr17:45301200-45302000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:45301200-45302200	Weak transcription	HSMMtube	muscle

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