Variant report

Variant	rs17824948
Chromosome Location	chr2:180612155-180612156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10930884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930885	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1385970	1.00[CHB][hapmap]
rs1486232	1.00[CHB][hapmap]
rs165383	1.00[CHB][hapmap]
rs16867038	1.00[CHB][hapmap]
rs16867040	1.00[CHB][hapmap]
rs16867042	1.00[CHB][hapmap]
rs17772985	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs17773184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773667	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17773899	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773927	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775571	1.00[CHB][hapmap]
rs17775913	1.00[CHB][hapmap]
rs17775991	1.00[CHB][hapmap]
rs17776109	1.00[CHB][hapmap]
rs17823821	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs17823881	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs17824301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs17824564	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17824913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825317	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17825747	1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17831917	1.00[CHB][hapmap]
rs187744	1.00[CHB][hapmap]
rs2126424	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs2367798	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]
rs2367800	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2630544	0.92[AMR][1000 genomes]
rs56342697	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56837904	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59847923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60243803	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180392	1.00[ASN][1000 genomes]
rs62181524	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62181526	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6433805	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs6433806	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs6433808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs6718670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727665	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs6738348	1.00[CHB][hapmap]
rs73046887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73046901	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048517	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557892	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570042	1.00[CHB][hapmap]
rs7574741	1.00[CHB][hapmap];0.87[YRI][hapmap]
rs7581371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602719	1.00[CHB][hapmap]

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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180608800-180613000	Enhancers	Fetal Lung	lung
2	chr2:180610800-180613800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:180610800-180614000	Weak transcription	Right Atrium	heart
4	chr2:180610800-180614000	Weak transcription	HSMM	muscle
5	chr2:180610800-180621200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180611000-180613800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:180611200-180614000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180611800-180612200	Bivalent Enhancer	Fetal Heart	heart
9	chr2:180612000-180612200	Enhancers	NHDF-Ad	bronchial
10	chr2:180612000-180613600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:180612000-180614000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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