Variant report

Variant	rs17014320
Chromosome Location	chr1:209512173-209512174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209505056..209506644-chr1:209510919..209512526,2	K562	blood:
2	chr1:209509164..209510795-chr1:209511355..209513007,2	K562	blood:
3	chr1:209512114..209513913-chr1:209517327..209518870,2	K562	blood:
4	chr1:209382422..209384753-chr1:209511940..209513719,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1006316	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1006317	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10494920	0.90[AMR][1000 genomes]
rs10494921	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11811038	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs12096864	0.80[CEU][hapmap]
rs12135550	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs1354850	0.89[ASN][1000 genomes]
rs1354852	0.89[ASN][1000 genomes]
rs1354853	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1395753	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1507331	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1507336	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014323	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014332	0.83[AMR][1000 genomes]
rs17014337	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17014370	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17014375	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014395	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014396	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1857967	0.92[CHB][hapmap]
rs4844473	0.91[ASN][1000 genomes]
rs4844807	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4844809	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4844815	0.81[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4844820	0.86[ASN][1000 genomes]
rs4844821	0.91[ASN][1000 genomes]
rs55684110	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56265166	0.81[AMR][1000 genomes]
rs58017268	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60460414	0.87[ASN][1000 genomes]
rs60534728	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6674793	0.89[ASN][1000 genomes]
rs6681466	0.91[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74155473	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516864	0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs7548184	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:209506200-209513600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:209506200-209515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:209508800-209513000	Weak transcription	Fetal Brain Male	brain

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