Variant report

Variant	rs2231732
Chromosome Location	chr1:220089370-220089371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6671629	1.00[CHB][hapmap]

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	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
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 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	chr1:220086200-220097400	Genic enhancers	Liver	Liver
3	chr1:220086600-220097400	Weak transcription	Fetal Brain Female	brain
4	chr1:220086800-220089400	Strong transcription	Fetal Intestine Large	intestine
5	chr1:220087200-220097800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:220087200-220099600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:220087400-220099600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:220087600-220091000	Weak transcription	Fetal Brain Male	brain
9	chr1:220088000-220089400	Strong transcription	HepG2	liver
10	chr1:220088200-220089400	Genic enhancers	K562	blood
11	chr1:220088400-220089400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:220088600-220089400	Strong transcription	Brain Cingulate Gyrus	brain
13	chr1:220088600-220089400	Strong transcription	Fetal Intestine Small	intestine
14	chr1:220088600-220089600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:220088800-220095800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:220089000-220101000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:220089200-220100000	Weak transcription	Brain Germinal Matrix	brain

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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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