Variant report

Variant	rs4414229
Chromosome Location	chr11:120472569-120472570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11606452	0.83[CHB][hapmap]
rs1320721	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4245037	0.81[AFR][1000 genomes]
rs4245039	0.87[EUR][1000 genomes]
rs4367952	0.98[EUR][1000 genomes]
rs4611216	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4936522	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4936523	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4936525	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4936526	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4936529	0.97[EUR][1000 genomes]
rs6589819	0.97[EUR][1000 genomes]
rs6589820	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs7101412	0.91[EUR][1000 genomes]
rs7127199	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7934084	0.97[EUR][1000 genomes]
rs7947677	0.97[EUR][1000 genomes]
rs7949316	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7952478	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120468600-120479400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:120468600-120479400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120469000-120473000	Enhancers	Fetal Lung	lung
4	chr11:120471000-120479400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:120471200-120479200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:120471400-120476400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120471400-120479400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:120471800-120473000	Enhancers	Fetal Brain Male	brain
9	chr11:120471800-120476000	Weak transcription	GM12878-XiMat	blood
10	chr11:120472000-120472800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:120472000-120473200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:120472200-120472600	Weak transcription	Ovary	ovary
13	chr11:120472200-120473000	Enhancers	Brain Germinal Matrix	brain
14	chr11:120472200-120473400	Enhancers	NH-A	brain
15	chr11:120472400-120472600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:120472400-120472600	Enhancers	Fetal Kidney	kidney
17	chr11:120472400-120472800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:120472400-120473000	Enhancers	Fetal Brain Female	brain
19	chr11:120472400-120473200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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