Variant report

Variant	rs1553044
Chromosome Location	chr4:55776194-55776195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10003816	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10009476	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10021443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10517339	1.00[AMR][1000 genomes]
rs1553043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1553045	0.87[AMR][1000 genomes]
rs28512369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60454749	0.81[AFR][1000 genomes]
rs6554212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826975	0.95[AFR][1000 genomes];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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	25 gene(s)	inside rSNPs	diseases
3	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55769600-55780200	Weak transcription	Aorta	Aorta
2	chr4:55771400-55778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:55774600-55777000	Enhancers	Primary T cells from cord blood	blood
4	chr4:55775000-55776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:55775000-55776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:55775200-55776400	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:55775200-55776800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:55775600-55776600	Enhancers	NHEK	skin
9	chr4:55775800-55776200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:55775800-55776200	Enhancers	Fetal Thymus	thymus
11	chr4:55775800-55776400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:55775800-55776600	Enhancers	Primary B cells from cord blood	blood
13	chr4:55775800-55776600	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:55775800-55776600	Enhancers	Primary T helper cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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