Variant report

Variant	rs35247782
Chromosome Location	chr1:113794578-113794579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12065907	0.86[AMR][1000 genomes];0.90[EUR][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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35247782	CDKN1A	trans	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113786600-113795200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:113787000-113796400	Enhancers	Pancreas	Pancrea
3	chr1:113790400-113795000	Weak transcription	Gastric	stomach
4	chr1:113790600-113794800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:113790800-113794600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:113790800-113796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:113791200-113795000	Weak transcription	Colonic Mucosa	Colon
8	chr1:113791400-113794800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:113791400-113798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:113793600-113795200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:113793800-113798600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:113794200-113794600	Weak transcription	Esophagus	oesophagus
13	chr1:113794200-113794800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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