Variant report

Variant	rs1906230
Chromosome Location	chr19:44325782-44325783
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16976829	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16976868	0.89[YRI][hapmap];0.90[AMR][1000 genomes]
rs7248346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248374	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7258717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8107342	0.93[AFR][1000 genomes];1.00[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44325000-44331000	Weak transcription	Aorta	Aorta
2	chr19:44325000-44331000	Weak transcription	Spleen	Spleen
3	chr19:44325200-44330800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:44325200-44330800	Weak transcription	Brain Substantia Nigra	brain
5	chr19:44325200-44330800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:44325200-44330800	Weak transcription	NHEK	skin
7	chr19:44325200-44331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:44325400-44330800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:44325400-44330800	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:44325400-44330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:44325400-44331000	Weak transcription	HMEC	breast

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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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