Variant report

Variant	rs72953481
Chromosome Location	chr4:148678964-148678965
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10011891	1.00[AMR][1000 genomes]
rs10023419	1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034181	0.94[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28726377	0.82[AFR][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	0.97[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	0.93[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:60 , 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	chr4:148674400-148679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:148675600-148679200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:148675600-148681200	Weak transcription	Pancreas	Pancrea
10	chr4:148675600-148681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:148675600-148681600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:148675600-148681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:148676400-148679200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:148676600-148682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:148677000-148681400	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:148677000-148681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:148677200-148679000	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:148677200-148679200	Enhancers	Ovary	ovary
19	chr4:148677400-148681400	Weak transcription	GM12878-XiMat	blood
20	chr4:148677600-148680600	Weak transcription	Small Intestine	intestine
21	chr4:148677600-148681200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:148677600-148681200	Weak transcription	A549	lung
23	chr4:148677600-148681400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:148677600-148689000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:148677800-148681200	Weak transcription	Psoas Muscle	Psoas
26	chr4:148677800-148681600	Weak transcription	HSMM	muscle
27	chr4:148677800-148686600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:148677800-148688800	Weak transcription	NH-A	brain
29	chr4:148678000-148679200	Enhancers	Left Ventricle	heart
30	chr4:148678000-148681200	Weak transcription	Fetal Heart	heart
31	chr4:148678000-148681200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:148678000-148681600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:148678000-148685200	Weak transcription	NHDF-Ad	bronchial
34	chr4:148678000-148686000	Weak transcription	NHEK	skin
35	chr4:148678000-148686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:148678000-148689000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:148678000-148689200	Weak transcription	HSMMtube	muscle
38	chr4:148678000-148693200	Weak transcription	Adipose Nuclei	Adipose
39	chr4:148678200-148681600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:148678200-148681800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:148678200-148685000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:148678200-148686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:148678200-148688800	Weak transcription	Osteobl	bone
44	chr4:148678400-148679000	Enhancers	Right Ventricle	heart
45	chr4:148678400-148681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:148678600-148679000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:148678600-148679000	Strong transcription	Aorta	Aorta
48	chr4:148678600-148679000	Enhancers	Right Atrium	heart
49	chr4:148678600-148679200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:148678600-148679200	Strong transcription	Fetal Intestine Small	intestine

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