Variant report

Variant	rs73984318
Chromosome Location	chr2:210865901-210865902
allele	C/T
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:4)

rs_ID	r²[population]
rs11682724	1.00[ASN][1000 genomes]
rs1468731	1.00[ASN][1000 genomes]
rs2539866	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60523731	1.00[ASN][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210807000-210866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:210827400-210866600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:210838800-210866800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:210844400-210866600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:210857400-210866400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:210858400-210866600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:210859000-210866400	Weak transcription	Pancreas	Pancrea
8	chr2:210860400-210866600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:210863600-210866600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:210863800-210866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:210863800-210866600	Weak transcription	HUVEC	blood vessel
12	chr2:210865600-210866600	Weak transcription	Spleen	Spleen
13	chr2:210865800-210867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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