Variant report

Variant	rs4848384
Chromosome Location	chr2:115969898-115969899
allele	A/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:4)

rs_ID	r²[population]
rs10187050	0.80[AMR][1000 genomes]
rs11123288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4849385	0.80[AMR][1000 genomes]
rs7565369	0.80[AMR][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	nsv1014713	chr2:115858427-116018055	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr2:115965600-115971000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:115966800-115970600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:115968800-115970000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:115969000-115970200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:115969000-115971200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:115969200-115970000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:115969200-115970200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:115969200-115972800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:115969400-115970000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:115969400-115970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:115969400-115972600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:115969600-115970200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:115969800-115970000	Enhancers	ES-I3 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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