Variant report

Variant	rs12511208
Chromosome Location	chr4:22377787-22377788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10010581	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10031374	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12498851	0.93[ASN][1000 genomes]
rs13104119	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13109231	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13111654	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13124084	0.83[ASN][1000 genomes]
rs1500458	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1500465	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587491	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587492	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1827239	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1827240	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1983021	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56717131	0.93[ASN][1000 genomes]
rs7683451	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9684289	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817467	chr4:21602921-22422816	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv428756	chr4:22239826-22406106	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22329000-22389400	Weak transcription	Pancreas	Pancrea
2	chr4:22336600-22385400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:22354000-22378200	Weak transcription	Aorta	Aorta
4	chr4:22365600-22386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:22365800-22384600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:22366000-22385000	Weak transcription	NHEK	skin
7	chr4:22368800-22418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:22372000-22400400	Weak transcription	Gastric	stomach
10	chr4:22374800-22383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:22375000-22385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:22376000-22382200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:22376000-22385200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:22376400-22389200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:22377600-22389800	Weak transcription	Colon Smooth Muscle	Colon

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