Variant report

Variant	rs16823226
Chromosome Location	chr1:184438537-184438538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184386666..184388576-chr1:184437427..184439625,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35719021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56933148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131686	0.82[AFR][1000 genomes]
rs74131688	0.89[AMR][1000 genomes];1.00[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184425400-184442200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:184427400-184443800	Weak transcription	Esophagus	oesophagus
3	chr1:184427400-184444000	Weak transcription	Lung	lung
4	chr1:184427400-184448400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:184429000-184454800	Weak transcription	Aorta	Aorta
6	chr1:184429400-184449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:184429600-184442200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:184430400-184439000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:184430600-184444000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:184430600-184449800	Weak transcription	Right Ventricle	heart
11	chr1:184430600-184450000	Weak transcription	Fetal Stomach	stomach
12	chr1:184431400-184446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:184431800-184440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:184431800-184447600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:184432000-184443400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:184433200-184442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:184433600-184442000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:184433600-184449600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:184433800-184443600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:184435200-184440400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:184435400-184438600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:184435400-184439600	Weak transcription	NHEK	skin
23	chr1:184436800-184439600	Weak transcription	Psoas Muscle	Psoas
24	chr1:184436800-184440600	Weak transcription	Right Atrium	heart
25	chr1:184436800-184442400	Weak transcription	Left Ventricle	heart
26	chr1:184436800-184442400	Weak transcription	Ovary	ovary
27	chr1:184436800-184444000	Weak transcription	Pancreas	Pancrea
28	chr1:184437000-184440600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:184437000-184440600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:184437000-184441000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:184438000-184450600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:184438400-184439400	Enhancers	Fetal Brain Male	brain
33	chr1:184438400-184439400	Enhancers	Fetal Heart	heart
34	chr1:184438400-184440000	Enhancers	Skeletal Muscle Male	skeletal muscle

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