Variant report

Variant	rs1343604
Chromosome Location	chr13:53649813-53649814
allele	G/T
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:14)

rs_ID	r²[population]
rs1112612	0.84[AMR][1000 genomes]
rs1112613	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429014	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12584280	1.00[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs1936382	0.90[EUR][1000 genomes]
rs1936383	0.91[EUR][1000 genomes]
rs1936384	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2185961	1.00[CEU][hapmap];0.91[TSI][hapmap]
rs2799343	0.80[AMR][1000 genomes]
rs2806972	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2806975	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2806976	0.80[AMR][1000 genomes]
rs2806977	0.80[AMR][1000 genomes]
rs7998823	0.83[ASN][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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53639200-53654800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:53647200-53651600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:53647400-53650800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:53647400-53651600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:53648200-53650400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:53648400-53650000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:53648800-53651200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:53649000-53650000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr13:53649000-53650000	Enhancers	Fetal Heart	heart
10	chr13:53649200-53650400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:53649400-53651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr13:53649600-53650000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:53649600-53650200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:53649600-53650200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:53649600-53651600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:53649800-53650200	Enhancers	Cortex derived primary cultured neurospheres	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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