Variant report

Variant	rs16866987
Chromosome Location	chr2:180631963-180631964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180630128..180633028-chr2:180639169..180641333,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12052744	0.88[ASN][1000 genomes]
rs12052765	0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12053119	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12465379	0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12466207	0.91[ASN][1000 genomes]
rs12472888	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12473571	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1385972	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1533384	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16866963	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs16866968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866978	0.82[ASN][1000 genomes]
rs16866986	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16866989	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16866991	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs16866992	0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs28404240	0.94[ASN][1000 genomes]
rs356407	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs356413	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55728092	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58217303	0.83[ASN][1000 genomes]
rs7574345	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592797	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7607561	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180629600-180633200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:180630000-180632200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:180630000-180632200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:180630200-180632200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:180630800-180633400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:180631000-180632000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:180631000-180633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:180631200-180632200	Strong transcription	Liver	Liver
9	chr2:180631600-180632000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:180631600-180632200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:180631800-180632000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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