Variant report

Variant	rs851213
Chromosome Location	chr1:223416424-223416425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs851141	1.00[AMR][1000 genomes]
rs851142	1.00[AMR][1000 genomes]
rs851208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851209	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs851210	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs851211	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs851215	0.88[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223407600-223419400	Weak transcription	Esophagus	oesophagus
2	chr1:223407800-223416600	Weak transcription	Stomach Mucosa	stomach
3	chr1:223407800-223419600	Weak transcription	Right Atrium	heart
4	chr1:223408400-223417400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:223413000-223420800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:223414000-223421000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:223414800-223420600	Weak transcription	Primary T cells from cord blood	blood
8	chr1:223415000-223417800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:223415000-223417800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:223415200-223417600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:223415200-223417600	Weak transcription	Fetal Thymus	thymus
12	chr1:223415200-223418000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:223415200-223421000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:223416000-223417200	Enhancers	K562	blood
15	chr1:223416400-223416600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:223416400-223417200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:223416400-223417200	Enhancers	Gastric	stomach

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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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