Variant report

Variant	rs9568994
Chromosome Location	chr13:54769495-54769496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1335986	0.94[ASN][1000 genomes]
rs1360776	0.94[ASN][1000 genomes]
rs1413882	0.94[ASN][1000 genomes]
rs1414545	0.94[ASN][1000 genomes]
rs1467838	0.94[ASN][1000 genomes]
rs2105024	0.92[ASN][1000 genomes]
rs2152083	0.83[ASN][1000 genomes]
rs2409028	0.94[ASN][1000 genomes]
rs6420308	0.94[ASN][1000 genomes]
rs7326175	0.83[ASN][1000 genomes]
rs7326336	0.95[ASN][1000 genomes]
rs9316707	0.95[ASN][1000 genomes]
rs9536648	0.81[ASN][1000 genomes]
rs9563202	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563203	0.94[ASN][1000 genomes]
rs9568993	0.95[ASN][1000 genomes]
rs9568995	0.93[ASN][1000 genomes]

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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54760400-54770200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:54764200-54769600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:54767400-54769800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:54767800-54770600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:54768000-54769800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:54768000-54770600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:54768200-54769800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:54768200-54770000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:54768400-54770000	Enhancers	Colon Smooth Muscle	Colon
10	chr13:54768400-54770200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:54768600-54773000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:54768800-54770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:54768800-54770400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:54768800-54770600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:54769000-54770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:54769000-54773000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:54769000-54774000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:54769000-54774400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:54769200-54769800	Weak transcription	HUES6 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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