Variant report

Variant	rs17005047
Chromosome Location	chr4:82003824-82003825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10002442	0.87[EUR][1000 genomes]
rs10857207	0.87[JPT][hapmap]
rs1112880	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1112881	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1113771	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11723025	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11723204	0.90[JPT][hapmap]
rs11724815	0.83[EUR][1000 genomes]
rs11731129	0.86[JPT][hapmap]
rs13125120	0.85[EUR][1000 genomes]
rs13130117	0.87[EUR][1000 genomes]
rs1443538	0.87[JPT][hapmap]
rs1443539	0.87[JPT][hapmap]
rs1443540	0.90[JPT][hapmap]
rs1443545	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs17005046	0.87[EUR][1000 genomes]
rs17005053	0.80[JPT][hapmap]
rs17005059	0.87[JPT][hapmap]
rs17005060	0.91[JPT][hapmap]
rs17005062	0.87[JPT][hapmap]
rs17005063	0.85[JPT][hapmap]
rs2028645	0.87[JPT][hapmap]
rs2289682	0.86[JPT][hapmap]
rs28454856	0.89[EUR][1000 genomes]
rs2868131	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2868132	0.86[JPT][hapmap]
rs2868133	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2868134	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2868139	0.87[JPT][hapmap]
rs28685252	0.85[EUR][1000 genomes]
rs2903748	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34281791	0.89[EUR][1000 genomes]
rs34954944	0.83[EUR][1000 genomes]
rs35176186	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3796804	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3822224	0.90[JPT][hapmap]
rs4565072	0.89[EUR][1000 genomes]
rs6821258	0.90[JPT][hapmap]
rs6833113	0.87[EUR][1000 genomes]
rs6840562	0.86[ASN][1000 genomes]
rs7671128	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7675843	0.86[JPT][hapmap]
rs7679480	0.88[CEU][hapmap]
rs7695150	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7700247	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs980767	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1006466	chr4:81888983-82009675	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr4:81998200-82030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:82002600-82005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:82003600-82004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:82003600-82006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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