Variant report

Variant	rs4721099
Chromosome Location	chr7:12488535-12488536
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	chr7:12480338..12484247-chr7:12487058..12490542,4	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10046485	0.86[ASN][1000 genomes]
rs10046487	0.86[ASN][1000 genomes]
rs10046491	0.87[ASN][1000 genomes]
rs10085906	0.90[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1012462	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1020152	0.90[ASN][1000 genomes]
rs1020153	0.90[ASN][1000 genomes]
rs10215269	0.93[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs10215656	0.87[ASN][1000 genomes]
rs10254572	0.90[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10255444	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10266368	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10266592	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10268223	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10278216	0.90[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10278300	0.90[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10488155	0.87[ASN][1000 genomes]
rs10499419	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1072557	0.89[EUR][1000 genomes]
rs11974426	0.80[ASN][1000 genomes]
rs11977668	0.87[ASN][1000 genomes]
rs11981273	0.87[ASN][1000 genomes]
rs11983017	0.89[EUR][1000 genomes]
rs1440017	0.87[ASN][1000 genomes]
rs1440019	0.83[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1595803	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16877397	0.88[EUR][1000 genomes]
rs16877400	0.88[CEU][hapmap];0.95[GIH][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16877494	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17165894	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs17165896	0.81[CEU][hapmap]
rs17165906	1.00[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs17165910	1.00[CEU][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs17165936	0.89[EUR][1000 genomes]
rs17165995	1.00[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17166017	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17166022	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17166028	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166034	0.83[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1899031	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108820	0.90[CEU][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159208	0.85[ASN][1000 genomes]
rs28551688	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28551764	0.87[ASN][1000 genomes]
rs34965005	0.87[ASN][1000 genomes]
rs35171886	0.88[EUR][1000 genomes]
rs3735183	0.86[ASN][1000 genomes]
rs3801366	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs3823844	0.90[CEU][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs3846989	0.86[ASN][1000 genomes]
rs4719312	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4719316	0.84[ASN][1000 genomes]
rs4721092	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs4721093	0.90[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4721094	0.86[EUR][1000 genomes]
rs4721095	0.90[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs4721104	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs57076782	0.87[ASN][1000 genomes]
rs57347805	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57501786	0.88[EUR][1000 genomes]
rs57623700	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57835825	0.87[ASN][1000 genomes]
rs58280274	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58436782	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58775458	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59060587	0.87[ASN][1000 genomes]
rs59301534	0.87[ASN][1000 genomes]
rs59739486	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60043259	0.87[ASN][1000 genomes]
rs60983130	0.88[EUR][1000 genomes]
rs61112361	0.86[ASN][1000 genomes]
rs61529219	0.83[EUR][1000 genomes]
rs66688036	0.83[EUR][1000 genomes]
rs6950922	0.90[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951017	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6954423	0.87[ASN][1000 genomes]
rs6959981	0.91[ASN][1000 genomes]
rs6963925	0.84[ASN][1000 genomes]
rs6968600	0.86[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs6975302	0.87[ASN][1000 genomes]
rs6975517	0.87[ASN][1000 genomes]
rs6976074	0.87[ASN][1000 genomes]
rs6977724	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6977850	0.89[ASN][1000 genomes]
rs73056737	0.87[ASN][1000 genomes]
rs73056743	0.87[ASN][1000 genomes]
rs73056757	0.87[ASN][1000 genomes]
rs73288158	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73288159	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs734083	0.87[ASN][1000 genomes]
rs758282	0.87[ASN][1000 genomes]
rs7781993	0.90[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784095	0.88[EUR][1000 genomes]
rs7785791	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7794551	0.85[ASN][1000 genomes]
rs7795767	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796334	0.90[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7806977	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription 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	6 gene(s)	inside rSNPs	diseases
10	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv887639	chr7:12448482-12488535	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4721099	VWDE	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12477000-12490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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