Variant report

Variant	rs419857
Chromosome Location	chr4:167239863-167239864
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	chr4:167239410..167241651-chr4:167242890..167245668,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPOCK3-5	chr4:167236991-167240148	predAs_chen_BG208718_1

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10027143	0.89[EUR][1000 genomes]
rs1350654	0.94[EUR][1000 genomes]
rs1531338	0.94[EUR][1000 genomes]
rs1663605	0.94[EUR][1000 genomes]
rs1663606	0.94[EUR][1000 genomes]
rs1663607	0.84[EUR][1000 genomes]
rs1675012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675016	0.94[EUR][1000 genomes]
rs1675018	0.94[EUR][1000 genomes]
rs1675032	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1870532	0.94[EUR][1000 genomes]
rs28760893	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353077	0.92[EUR][1000 genomes]
rs364832	1.00[EUR][1000 genomes]
rs368067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370093	0.94[EUR][1000 genomes]
rs373243	0.89[EUR][1000 genomes]
rs373801	1.00[EUR][1000 genomes]
rs382617	0.94[EUR][1000 genomes]
rs386236	1.00[EUR][1000 genomes]
rs386265	1.00[EUR][1000 genomes]
rs390012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394704	1.00[EUR][1000 genomes]
rs399138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408059	0.94[EUR][1000 genomes]
rs410627	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs410691	0.94[EUR][1000 genomes]
rs412193	1.00[EUR][1000 genomes]
rs413764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421201	0.94[EUR][1000 genomes]
rs422650	0.92[EUR][1000 genomes]
rs423947	0.94[EUR][1000 genomes]
rs424343	0.94[EUR][1000 genomes]
rs426538	1.00[EUR][1000 genomes]
rs427837	0.94[EUR][1000 genomes]
rs431882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434957	1.00[EUR][1000 genomes]
rs435102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443289	1.00[EUR][1000 genomes]
rs443475	0.94[EUR][1000 genomes]
rs445070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445668	1.00[EUR][1000 genomes]
rs446918	1.00[EUR][1000 genomes]
rs452467	1.00[EUR][1000 genomes]
rs57142842	0.86[EUR][1000 genomes]
rs57325904	0.86[EUR][1000 genomes]
rs576300	1.00[EUR][1000 genomes]
rs60439658	0.92[EUR][1000 genomes]
rs60664386	0.86[EUR][1000 genomes]
rs6810473	0.86[EUR][1000 genomes]
rs6814145	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6816264	0.92[EUR][1000 genomes]
rs6837241	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs692298	1.00[EUR][1000 genomes]
rs73861233	0.92[EUR][1000 genomes]
rs73861238	0.92[EUR][1000 genomes]
rs73861240	0.92[EUR][1000 genomes]
rs73861252	0.92[EUR][1000 genomes]
rs73864111	0.86[EUR][1000 genomes]
rs7663334	0.92[EUR][1000 genomes]
rs7677325	0.86[EUR][1000 genomes]
rs833486	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9992643	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821638	chr4:166837633-167262625	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv881029	chr4:167060016-167284757	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1032009	chr4:167154813-167403235	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv880900	chr4:167155443-167368812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv881290	chr4:167163302-167284757	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv880804	chr4:167185391-167274823	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv880967	chr4:167185391-167366567	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv881405	chr4:167193885-167628013	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167231600-167240600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:167239000-167241600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:167239400-167240000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:167239400-167240600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:167239400-167241400	Enhancers	NH-A	brain
6	chr4:167239800-167240200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:167239800-167240800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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