Variant report

Variant	rs11689513
Chromosome Location	chr2:180457010-180457011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11681178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11683314	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11688721	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11901866	0.80[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13000183	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13012626	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13014208	0.80[CEU][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13018742	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1356062	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1356063	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1606815	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17766255	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17767480	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17767681	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17768733	0.80[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17768920	0.80[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17818499	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17818703	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17819812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17820073	0.80[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1877942	0.80[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1996240	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34105987	1.00[ASN][1000 genomes]
rs35427104	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35877676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893876	0.89[ASN][1000 genomes]
rs4893877	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4894110	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4894111	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4894114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66812964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053349	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6738101	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6743733	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67636064	1.00[ASN][1000 genomes]
rs72958001	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7608208	1.00[CHB][hapmap]
rs872158	0.85[CEU][hapmap]
rs951424	0.80[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs954649	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875471	chr2:180448523-180469778	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180455400-180457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:180456200-180457600	Enhancers	Osteobl	bone
4	chr2:180456200-180458000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:180456400-180457200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:180456400-180457400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:180456400-180457400	Enhancers	NHLF	lung
8	chr2:180456400-180459400	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:180456600-180458400	Weak transcription	Psoas Muscle	Psoas
10	chr2:180456600-180459200	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:180456600-180459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:180456800-180457200	Flanking Active TSS	HSMM	muscle
13	chr2:180456800-180457400	Enhancers	NH-A	brain
14	chr2:180456800-180460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:180457000-180457200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:180457000-180458000	Enhancers	Fetal Intestine Small	intestine

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