Variant report

Variant	rs4506429
Chromosome Location	chr1:180106573-180106574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180104470..180106814-chr1:180110099..180112797,3	K562	blood:
2	chr1:180105408..180107246-chr1:180123861..180125610,2	K562	blood:
3	chr1:180098705..180101372-chr1:180105512..180107387,2	MCF-7	breast:
4	chr1:180104990..180107036-chr1:180115597..180118209,2	K562	blood:
5	chr1:180105036..180107165-chr1:180200973..180202930,2	MCF-7	breast:
6	chr1:180103401..180107232-chr1:180135881..180138747,3	MCF-7	breast:
7	chr1:180106112..180112838-chr1:180122179..180128333,6	MCF-7	breast:
8	chr1:180103740..180108161-chr1:180108399..180112441,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116260	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10753206	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798729	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10798730	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798732	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913917	0.89[CEU][hapmap]
rs10913927	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10913931	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027335	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12040314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12080763	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2477112	0.89[CEU][hapmap]
rs2477116	0.81[AMR][1000 genomes]
rs2477118	0.88[CEU][hapmap]
rs2501607	0.88[CEU][hapmap]
rs2501611	0.89[CEU][hapmap]
rs2501613	0.88[CEU][hapmap]
rs2501615	0.87[CEU][hapmap]
rs2501617	0.81[CEU][hapmap]
rs2762859	0.88[CEU][hapmap]
rs3767200	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3767202	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3818999	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3930305	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4076449	0.89[CEU][hapmap]
rs4147169	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4256775	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4336810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4651057	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4652462	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4652463	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4652465	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4652471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652472	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652473	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652475	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs483307	0.89[CEU][hapmap]
rs510209	0.89[CEU][hapmap]
rs528350	0.81[CEU][hapmap]
rs60905477	0.81[ASN][1000 genomes]
rs6425603	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6425609	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6657347	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6691060	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525385	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7528811	0.81[CEU][hapmap];0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs7551181	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7551902	0.81[ASN][1000 genomes]
rs9286932	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs9425481	0.85[EUR][1000 genomes]
rs9425482	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9425483	0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs9425485	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425486	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425489	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9425849	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs9425854	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs9425855	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9425856	0.83[EUR][1000 genomes]
rs9425860	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9425861	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9425863	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425866	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9425868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr1:180104200-180107000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:180105800-180107000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:180105800-180110800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:180106000-180107200	Enhancers	HUVEC	blood vessel

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