Variant report

Variant	rs11920961
Chromosome Location	chr3:151219429-151219430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151198937..151201376-chr3:151218846..151221278,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10935855	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11918597	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11919438	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12152213	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185992	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12492469	0.81[EUR][1000 genomes]
rs12630095	0.85[YRI][hapmap]
rs28844906	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34819348	0.94[EUR][1000 genomes]
rs4264708	0.88[EUR][1000 genomes]
rs4270481	0.91[EUR][1000 genomes]
rs4270482	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289322	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4312631	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4343605	0.88[ASN][1000 genomes]
rs4546128	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4564957	0.80[EUR][1000 genomes]
rs4632523	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55649933	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55650514	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55897734	0.88[ASN][1000 genomes]
rs56164325	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56168503	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56397550	0.88[ASN][1000 genomes]
rs62281718	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440760	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6440762	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs66786641	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6766991	0.83[EUR][1000 genomes]
rs6767020	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6776211	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67817972	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6787645	0.86[AFR][1000 genomes]
rs6802648	0.83[EUR][1000 genomes]
rs73162221	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73164611	0.89[ASN][1000 genomes]
rs7427384	0.80[EUR][1000 genomes]
rs7612959	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7622119	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7632288	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7632849	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7639171	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv877650	chr3:151174010-151314449	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv819466	chr3:151196634-151219966	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151217400-151219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:151218400-151219800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:151218400-151220200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:151218400-151220200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:151218600-151219600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:151218600-151220000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:151218800-151219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:151218800-151220000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:151219000-151220400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:151219000-151252400	Weak transcription	Ovary	ovary
11	chr3:151219400-151219600	Flanking Active TSS	Fetal Lung	lung

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