Variant report

Variant	rs41292830
Chromosome Location	chr13:53626212-53626213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1112613	0.81[EUR][1000 genomes]
rs12429014	0.85[EUR][1000 genomes]
rs12584280	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1891946	1.00[ASN][1000 genomes]
rs1936382	0.87[EUR][1000 genomes]
rs1936383	0.88[EUR][1000 genomes]
rs1936384	0.84[EUR][1000 genomes]
rs2185961	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298234	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2806975	0.82[EUR][1000 genomes]
rs7333719	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53609000-53626400	Weak transcription	Small Intestine	intestine
2	chr13:53610800-53628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr13:53619200-53626600	Weak transcription	Gastric	stomach
4	chr13:53619400-53633000	Weak transcription	Pancreas	Pancrea
5	chr13:53619600-53626400	Weak transcription	Stomach Mucosa	stomach
6	chr13:53620200-53626600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:53621400-53626600	Weak transcription	Fetal Stomach	stomach
8	chr13:53621600-53626400	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:53624600-53626400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:53625000-53638800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:53625200-53626400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:53625400-53626400	Weak transcription	Brain Germinal Matrix	brain
13	chr13:53626200-53627600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links