Variant report

Variant	rs1819248
Chromosome Location	chr1:113765005-113765006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2359595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6656612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6696679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs773598	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs773599	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs773604	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs773605	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113758000-113768400	Weak transcription	Aorta	Aorta
2	chr1:113760400-113766000	Weak transcription	Gastric	stomach
3	chr1:113761000-113790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:113762000-113766200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:113762200-113766200	Weak transcription	Ovary	ovary
6	chr1:113762800-113766000	Weak transcription	K562	blood
7	chr1:113762800-113766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:113762800-113766200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:113762800-113774800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:113763600-113766200	Weak transcription	Pancreas	Pancrea
11	chr1:113763600-113768400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:113763800-113768400	Weak transcription	Fetal Brain Female	brain
13	chr1:113764000-113766000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:113764000-113766200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:113764000-113768400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:113764200-113766400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:113764400-113765400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:113764400-113767000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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