Variant report

Variant	rs72958849
Chromosome Location	chr4:106913535-106913536
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	chr4:106899986..106902171-chr4:106913002..106915324,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59985162	0.96[AFR][1000 genomes]
rs60334311	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60882191	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72958833	0.98[AFR][1000 genomes]
rs72958842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958876	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72958883	0.96[AFR][1000 genomes]
rs72958889	0.96[AFR][1000 genomes]
rs72958897	0.89[AFR][1000 genomes]
rs72960676	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv522792	chr4:106895964-106982793	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106907800-106925000	Weak transcription	Pancreas	Pancrea
2	chr4:106911200-106914000	Enhancers	Adipose Nuclei	Adipose
3	chr4:106912000-106915400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:106912400-106913600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:106912400-106920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:106912600-106913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:106912600-106915200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:106913000-106919200	Weak transcription	Aorta	Aorta
9	chr4:106913000-106919600	Weak transcription	Right Atrium	heart
10	chr4:106913200-106913600	Weak transcription	HSMM	muscle
11	chr4:106913200-106914200	Weak transcription	Left Ventricle	heart
12	chr4:106913200-106915200	Weak transcription	Fetal Heart	heart
13	chr4:106913200-106915400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:106913200-106915400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:106913200-106915400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:106913200-106915400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:106913200-106916000	Weak transcription	Esophagus	oesophagus
18	chr4:106913200-106916600	Weak transcription	Psoas Muscle	Psoas
19	chr4:106913200-106917800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:106913400-106913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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