Variant report

Variant	rs72953477
Chromosome Location	chr4:148677375-148677376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148652319..148654744-chr4:148676605..148679799,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10011891	1.00[AMR][1000 genomes]
rs10023419	1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11931510	1.00[AMR][1000 genomes]
rs11932755	0.83[AMR][1000 genomes]
rs11932883	0.83[AMR][1000 genomes]
rs28416885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34001293	0.83[AMR][1000 genomes]
rs57632432	0.83[AMR][1000 genomes]
rs58012022	0.83[AMR][1000 genomes]
rs58285779	0.83[AMR][1000 genomes]
rs58965352	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59938265	0.83[AMR][1000 genomes]
rs61312957	0.83[AMR][1000 genomes]
rs61355480	0.83[AMR][1000 genomes]
rs61363583	0.83[AMR][1000 genomes]
rs72945871	0.83[AMR][1000 genomes]
rs72945873	0.83[AMR][1000 genomes]
rs72945877	0.83[AMR][1000 genomes]
rs72945879	0.83[AMR][1000 genomes]
rs72945896	0.83[AMR][1000 genomes]
rs72947812	0.83[AMR][1000 genomes]
rs72947824	0.83[AMR][1000 genomes]
rs72947833	0.83[AMR][1000 genomes]
rs72947849	0.83[AMR][1000 genomes]
rs72947870	0.83[AMR][1000 genomes]
rs72947876	0.83[AMR][1000 genomes]
rs72947892	0.83[AMR][1000 genomes]
rs72949789	0.83[AMR][1000 genomes]
rs72949795	0.83[AMR][1000 genomes]
rs72949796	0.83[AMR][1000 genomes]
rs72949798	1.00[AMR][1000 genomes]
rs72951406	1.00[AMR][1000 genomes]
rs72951412	1.00[AMR][1000 genomes]
rs72951422	1.00[AMR][1000 genomes]
rs72951423	1.00[AMR][1000 genomes]
rs72953473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953481	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955506	1.00[AMR][1000 genomes]
rs9996365	1.00[AMR][1000 genomes]
rs9997304	1.00[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:66 , 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	chr4:148670400-148678400	Weak transcription	Right Ventricle	heart
8	chr4:148673000-148678600	Weak transcription	Gastric	stomach
9	chr4:148674200-148678000	Enhancers	NHDF-Ad	bronchial
10	chr4:148674200-148678400	Enhancers	Stomach Mucosa	stomach
11	chr4:148674400-148677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:148674400-148679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:148674800-148677400	Enhancers	GM12878-XiMat	blood
14	chr4:148674800-148678200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:148675000-148677800	Enhancers	HSMM	muscle
16	chr4:148675000-148678000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:148675000-148678200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:148675400-148678400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:148675400-148678800	Weak transcription	Lung	lung
20	chr4:148675600-148678000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:148675600-148679200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:148675600-148681200	Weak transcription	Pancreas	Pancrea
23	chr4:148675600-148681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:148675600-148681600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:148675600-148681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:148675800-148677800	Enhancers	NH-A	brain
27	chr4:148675800-148678000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:148676000-148678000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:148676200-148677400	Enhancers	Fetal Lung	lung
30	chr4:148676200-148678600	Weak transcription	Aorta	Aorta
31	chr4:148676400-148677600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:148676400-148677600	Enhancers	Small Intestine	intestine
33	chr4:148676400-148677800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:148676400-148677800	Enhancers	Fetal Intestine Small	intestine
35	chr4:148676400-148678000	Enhancers	NHEK	skin
36	chr4:148676400-148678200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:148676400-148679200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:148676600-148677600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:148676600-148678000	Enhancers	Adipose Nuclei	Adipose
40	chr4:148676600-148678000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:148676600-148678000	Enhancers	HMEC	breast
42	chr4:148676600-148678400	Enhancers	Colon Smooth Muscle	Colon
43	chr4:148676600-148682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:148676800-148677400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:148676800-148677600	Enhancers	Fetal Intestine Large	intestine
46	chr4:148676800-148677800	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:148676800-148678000	Enhancers	Fetal Heart	heart
48	chr4:148676800-148678000	Enhancers	HSMMtube	muscle
49	chr4:148676800-148678200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:148677000-148677600	Weak transcription	Placenta Amnion	Placenta Amnion

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