Variant report

Variant	rs16867045
Chromosome Location	chr2:180720513-180720514
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10205122	0.80[EUR][1000 genomes]
rs10930887	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12053220	0.90[JPT][hapmap]
rs12053223	0.90[JPT][hapmap]
rs12053553	0.90[JPT][hapmap]
rs12328338	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465175	1.00[JPT][hapmap]
rs1383413	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1486233	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs165379	1.00[JPT][hapmap]
rs165380	1.00[JPT][hapmap]
rs187745	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1906012	0.84[CEU][hapmap]
rs194674	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2170240	0.94[ASN][1000 genomes]
rs2219670	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2367797	0.93[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs259831	0.89[ASN][1000 genomes]
rs259833	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs259845	0.82[EUR][1000 genomes]
rs259849	0.88[ASN][1000 genomes]
rs2630539	0.87[ASN][1000 genomes]
rs55869281	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56152328	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56388438	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6433810	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6433811	0.84[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6750809	0.82[EUR][1000 genomes]
rs7570985	0.83[CEU][hapmap]
rs7585592	0.81[CEU][hapmap]
rs7588510	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs7607354	0.83[CEU][hapmap]

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	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
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180706800-180724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180718200-180720600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:180718200-180723600	Weak transcription	Liver	Liver
4	chr2:180719800-180720800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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