Variant report

Variant	rs4721093
Chromosome Location	chr7:12399190-12399191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
2	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10085906	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1012462	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10215258	0.90[ASN][1000 genomes]
rs10215266	0.85[ASN][1000 genomes]
rs10233818	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10249315	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10254572	1.00[CEU][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs10255444	0.84[EUR][1000 genomes]
rs10259259	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10262295	0.90[ASN][1000 genomes]
rs10262986	0.90[ASN][1000 genomes]
rs10266368	0.87[EUR][1000 genomes]
rs10266592	0.85[EUR][1000 genomes]
rs10268223	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10276892	0.94[ASN][1000 genomes]
rs10278216	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10278300	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10499419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1072557	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11983017	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667317	0.90[ASN][1000 genomes]
rs12669608	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12671655	0.90[ASN][1000 genomes]
rs1440024	0.94[ASN][1000 genomes]
rs1595803	0.84[EUR][1000 genomes]
rs16877363	0.83[CHB][hapmap]
rs16877384	0.90[ASN][1000 genomes]
rs16877397	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16877400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17165894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165896	1.00[ASW][hapmap];0.90[CEU][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17165906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165929	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs17165934	0.93[ASN][1000 genomes]
rs17165936	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17165942	0.94[ASN][1000 genomes]
rs17165995	0.90[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs17166017	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17166022	0.87[EUR][1000 genomes]
rs17166028	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs17190390	0.94[ASN][1000 genomes]
rs17275374	0.94[ASN][1000 genomes]
rs17275416	0.92[ASN][1000 genomes]
rs17275527	0.94[ASN][1000 genomes]
rs1888	1.00[YRI][hapmap]
rs1899031	0.87[EUR][1000 genomes]
rs2108820	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2119141	0.91[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs28551688	0.87[EUR][1000 genomes]
rs35171886	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3823844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4721092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721094	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4721095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4721099	0.85[EUR][1000 genomes]
rs57347805	0.87[EUR][1000 genomes]
rs57501786	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57623700	0.85[EUR][1000 genomes]
rs58280274	0.84[EUR][1000 genomes]
rs58436782	0.84[EUR][1000 genomes]
rs58775458	0.87[EUR][1000 genomes]
rs59739486	0.84[EUR][1000 genomes]
rs60983130	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61529219	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62448569	0.94[ASN][1000 genomes]
rs6460933	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6460934	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6460937	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6460940	0.94[ASN][1000 genomes]
rs6944618	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6944626	0.88[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6945167	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6945357	0.93[ASN][1000 genomes]
rs6950922	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6951017	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6977724	0.85[EUR][1000 genomes]
rs73288158	0.84[EUR][1000 genomes]
rs73288159	0.84[EUR][1000 genomes]
rs7781993	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7784095	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7785905	0.94[ASN][1000 genomes]
rs7787390	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7787405	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7789937	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7791259	0.94[ASN][1000 genomes]
rs7796334	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7796884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7797085	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7797283	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7802736	0.94[ASN][1000 genomes]
rs7804210	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7804218	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7806977	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809990	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs970035	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv887631	chr7:12360805-12434771	Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv887632	chr7:12360805-12439672	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv464371	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv606223	chr7:12371801-12434771	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv887633	chr7:12371801-12439672	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2763622	chr7:12375528-12424583	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv887634	chr7:12385391-12439672	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv470044	chr7:12392897-12434771	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4721093	VWDE	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:12390800-12401000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:12392200-12401800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:12393000-12401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:12393000-12406000	Strong transcription	K562	blood
12	chr7:12393400-12401000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:12393400-12401200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:12394000-12408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:12395400-12402400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:12397200-12418000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:12397600-12408200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:12398600-12401800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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