Variant report

Variant	rs12080020
Chromosome Location	chr1:220098736-220098737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220090638..220094600-chr1:220096572..220101080,9	K562	blood:
2	chr1:220051234..220053877-chr1:220096491..220099006,2	K562	blood:
3	chr1:220082601..220085803-chr1:220097043..220100830,4	K562	blood:
4	chr1:220095021..220098931-chr1:220099678..220102679,4	K562	blood:
5	chr1:220081392..220084316-chr1:220098102..220100494,2	K562	blood:
6	chr1:220088203..220094141-chr1:220096602..220103368,9	K562	blood:
7	chr1:220049887..220053877-chr1:220096491..220099006,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3011	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4846607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7515872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr1:220085400-220100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:220087200-220099600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:220087400-220099600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:220089000-220101000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:220089200-220100000	Weak transcription	Brain Germinal Matrix	brain
6	chr1:220096600-220099800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:220097000-220099000	Enhancers	Fetal Intestine Large	intestine
8	chr1:220097800-220099600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:220097800-220099800	Weak transcription	Fetal Brain Female	brain
10	chr1:220098000-220099600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:220098200-220099800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:220098400-220099400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:220098400-220099600	Genic enhancers	Fetal Intestine Small	intestine
14	chr1:220098600-220099400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:220098600-220099600	Active TSS	Liver	Liver
16	chr1:220098600-220099600	Enhancers	HepG2	liver
17	chr1:220098600-220099600	Active TSS	K562	blood

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Input of quick search could be:

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

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