Variant report

Variant	rs2298236
Chromosome Location	chr13:53623914-53623915
allele	C/T
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]
rs12552	0.91[JPT][hapmap]
rs1318007	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28756117	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34055554	0.99[EUR][1000 genomes];0.98[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:14 , 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	chr13:53618000-53624200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:53619200-53626600	Weak transcription	Gastric	stomach
5	chr13:53619400-53633000	Weak transcription	Pancreas	Pancrea
6	chr13:53619600-53626400	Weak transcription	Stomach Mucosa	stomach
7	chr13:53619800-53624200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:53620200-53624200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr13:53620200-53626600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:53621400-53626600	Weak transcription	Fetal Stomach	stomach
11	chr13:53621600-53626400	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:53622400-53625000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr13:53622800-53624600	Enhancers	Fetal Kidney	kidney
14	chr13:53623800-53625400	Enhancers	Brain Germinal Matrix	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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