Variant report

Variant	rs72965425
Chromosome Location	chr1:94182714-94182715
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	chr1:94162627..94164295-chr1:94179943..94182786,2	K562	blood:
2	chr1:94172245..94175304-chr1:94180570..94183782,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11800228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091446	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57108173	0.83[AMR][1000 genomes]
rs57729501	0.83[AMR][1000 genomes]
rs58491053	0.83[AMR][1000 genomes]
rs60890703	0.83[AMR][1000 genomes]
rs72965494	0.83[AMR][1000 genomes]
rs72965496	0.83[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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94172400-94186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:94175000-94187600	Weak transcription	Gastric	stomach
3	chr1:94176800-94186600	Weak transcription	Right Ventricle	heart
4	chr1:94177000-94186600	Weak transcription	Right Atrium	heart
5	chr1:94179200-94187600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:94179200-94188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:94181000-94183000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:94181000-94183000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:94181200-94183000	Enhancers	Hela-S3	cervix
10	chr1:94181400-94182800	Enhancers	GM12878-XiMat	blood
11	chr1:94181600-94182800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:94182000-94182800	ZNF genes & repeats	HSMM	muscle
13	chr1:94182200-94182800	ZNF genes & repeats	Aorta	Aorta
14	chr1:94182200-94182800	ZNF genes & repeats	HMEC	breast
15	chr1:94182200-94183000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:94182200-94183400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:94182200-94187600	Weak transcription	Fetal Brain Male	brain
18	chr1:94182400-94182800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:94182400-94186400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:94182400-94187200	Weak transcription	Psoas Muscle	Psoas
21	chr1:94182400-94188600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:94182600-94183400	ZNF genes & repeats	Fetal Thymus	thymus
23	chr1:94182600-94183600	Weak transcription	Thymus	Thymus
24	chr1:94182600-94186400	Weak transcription	Left Ventricle	heart
25	chr1:94182600-94186800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:94182600-94188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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