Variant report

Variant	rs2197888
Chromosome Location	chr13:39287334-39287335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12585515	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2442362	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442363	0.96[EUR][1000 genomes]
rs2442364	1.00[EUR][1000 genomes]
rs2496435	0.96[EUR][1000 genomes]
rs2496438	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2496439	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2496440	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2496441	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2496442	1.00[EUR][1000 genomes]
rs2496443	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2496444	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2496452	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9603413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs991093	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs991094	0.87[AMR][1000 genomes];0.99[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	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr13:39279200-39294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:39282200-39293200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:39283400-39300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:39286400-39287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:39286800-39287400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:39286800-39287400	Enhancers	Fetal Lung	lung
7	chr13:39286800-39287600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:39287000-39287400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:39287000-39287400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:39287000-39287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:39287200-39287600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:39287200-39287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:39287200-39288000	Weak transcription	H9 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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