Variant report

Variant	rs73705970
Chromosome Location	chr8:124602707-124602708
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	chr8:124499424..124501897-chr8:124602066..124604421,2	MCF-7	breast:
2	chr8:124597730..124602025-chr8:124602614..124604798,3	K562	blood:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73705962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73705963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73705971	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73705972	1.00[AFR][1000 genomes];0.85[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr8:124599200-124604400	Weak transcription	HSMMtube	muscle
2	chr8:124599400-124604400	Weak transcription	HSMM	muscle
3	chr8:124599400-124604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
5	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon
6	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:124600400-124604400	Weak transcription	Psoas Muscle	Psoas
8	chr8:124600400-124604600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:124601000-124602800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:124601200-124603800	Enhancers	K562	blood
11	chr8:124601200-124605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:124601400-124603400	Weak transcription	Aorta	Aorta
13	chr8:124601400-124605400	Enhancers	NHDF-Ad	bronchial
14	chr8:124601400-124607200	Enhancers	Osteobl	bone
15	chr8:124601800-124603200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:124601800-124604600	Weak transcription	Pancreas	Pancrea
17	chr8:124602000-124604200	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:124602000-124604400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:124602000-124605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:124602200-124602800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:124602400-124603400	Weak transcription	Fetal Lung	lung
22	chr8:124602400-124603400	Weak transcription	Right Atrium	heart
23	chr8:124602400-124604000	Weak transcription	HMEC	breast
24	chr8:124602400-124604200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:124602400-124604400	Weak transcription	Left Ventricle	heart
26	chr8:124602400-124605400	Weak transcription	Right Ventricle	heart
27	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:124602600-124603400	Weak transcription	NHLF	lung
29	chr8:124602600-124603800	Weak transcription	Ovary	ovary

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