Variant report

Variant	rs72953487
Chromosome Location	chr4:148679629-148679630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148660544..148662110-chr4:148679159..148680950,2	MCF-7	breast:
2	chr4:148652319..148654744-chr4:148676605..148679799,3	MCF-7	breast:
3	chr4:148679061..148682709-chr4:148682971..148685662,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10011891	0.83[AMR][1000 genomes]
rs10023419	0.83[AMR][1000 genomes]
rs10029636	0.83[AMR][1000 genomes]
rs10034181	0.83[AMR][1000 genomes]
rs11931510	0.83[AMR][1000 genomes]
rs28416885	0.83[AMR][1000 genomes]
rs28579791	0.83[AMR][1000 genomes]
rs58965352	0.83[AMR][1000 genomes]
rs72949798	0.83[AMR][1000 genomes]
rs72951406	0.83[AMR][1000 genomes]
rs72951412	0.83[AMR][1000 genomes]
rs72951422	0.83[AMR][1000 genomes]
rs72951423	0.83[AMR][1000 genomes]
rs72953473	0.83[AMR][1000 genomes]
rs72953477	0.83[AMR][1000 genomes]
rs72953481	0.83[AMR][1000 genomes]
rs72953502	0.83[AMR][1000 genomes]
rs72955506	0.83[AMR][1000 genomes]
rs9996365	0.83[AMR][1000 genomes]
rs9997304	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:148663600-148688800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:148664600-148682200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:148665800-148680800	Weak transcription	Thymus	Thymus
5	chr4:148669400-148682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:148670200-148693200	Weak transcription	Esophagus	oesophagus
7	chr4:148675600-148681200	Weak transcription	Pancreas	Pancrea
8	chr4:148675600-148681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:148675600-148681600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:148675600-148681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:148676600-148682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:148677000-148681400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:148677000-148681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:148677400-148681400	Weak transcription	GM12878-XiMat	blood
15	chr4:148677600-148680600	Weak transcription	Small Intestine	intestine
16	chr4:148677600-148681200	Weak transcription	Fetal Intestine Large	intestine
17	chr4:148677600-148681200	Weak transcription	A549	lung
18	chr4:148677600-148681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:148677600-148689000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:148677800-148681200	Weak transcription	Psoas Muscle	Psoas
21	chr4:148677800-148681600	Weak transcription	HSMM	muscle
22	chr4:148677800-148686600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:148677800-148688800	Weak transcription	NH-A	brain
24	chr4:148678000-148681200	Weak transcription	Fetal Heart	heart
25	chr4:148678000-148681200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:148678000-148681600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:148678000-148685200	Weak transcription	NHDF-Ad	bronchial
28	chr4:148678000-148686000	Weak transcription	NHEK	skin
29	chr4:148678000-148686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:148678000-148689000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:148678000-148689200	Weak transcription	HSMMtube	muscle
32	chr4:148678000-148693200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:148678200-148681600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:148678200-148681800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:148678200-148685000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:148678200-148686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:148678200-148688800	Weak transcription	Osteobl	bone
38	chr4:148678400-148681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:148678800-148685000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:148679000-148681200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:148679000-148681200	Weak transcription	Stomach Mucosa	stomach
42	chr4:148679000-148681800	Weak transcription	Right Atrium	heart
43	chr4:148679000-148686800	Weak transcription	Right Ventricle	heart
44	chr4:148679200-148680600	Weak transcription	Fetal Intestine Small	intestine
45	chr4:148679200-148681200	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:148679200-148681200	Weak transcription	Ovary	ovary
47	chr4:148679200-148681200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:148679200-148681200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:148679200-148681600	Weak transcription	Left Ventricle	heart
50	chr4:148679200-148685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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