Variant report

Variant	rs8049577
Chromosome Location	chr16:72504218-72504219
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72503607..72506590-chr16:72509410..72511219,2	K562	blood:
2	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1001493	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1006805	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10468266	0.89[EUR][1000 genomes]
rs10492821	0.82[EUR][1000 genomes]
rs11641842	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11860023	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11862324	0.90[AFR][1000 genomes]
rs12051542	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12325146	0.90[EUR][1000 genomes]
rs12325151	0.90[EUR][1000 genomes]
rs12445296	0.82[AFR][1000 genomes]
rs12445443	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12596611	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598536	0.80[AFR][1000 genomes]
rs12598598	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12599375	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12708933	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes]
rs13333122	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13335806	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1429072	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1560278	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16970900	0.87[AFR][1000 genomes]
rs16970908	0.87[AFR][1000 genomes]
rs16971030	0.89[EUR][1000 genomes]
rs16971035	0.90[EUR][1000 genomes]
rs16971036	0.90[EUR][1000 genomes]
rs16971037	0.87[EUR][1000 genomes]
rs16971050	0.90[EUR][1000 genomes]
rs16971112	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16971114	0.80[EUR][1000 genomes]
rs17287903	0.87[EUR][1000 genomes]
rs17359949	0.87[EUR][1000 genomes]
rs17609544	0.90[EUR][1000 genomes]
rs17609577	0.90[EUR][1000 genomes]
rs17609787	0.92[EUR][1000 genomes]
rs17609808	0.92[EUR][1000 genomes]
rs17677484	0.92[EUR][1000 genomes]
rs17677616	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17677890	0.92[EUR][1000 genomes]
rs17841357	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864229	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864231	0.89[AFR][1000 genomes]
rs1991530	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2079161	0.97[AFR][1000 genomes]
rs2158265	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2158266	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2163068	0.89[EUR][1000 genomes]
rs2358801	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28677977	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2905697	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2905699	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2914769	0.82[AFR][1000 genomes]
rs2914774	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2914777	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2914779	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967232	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967233	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967240	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35005335	0.80[EUR][1000 genomes]
rs4410082	0.90[AFR][1000 genomes]
rs4788473	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4788632	0.82[AMR][1000 genomes]
rs4788646	0.84[EUR][1000 genomes]
rs55766519	0.90[EUR][1000 genomes]
rs55808336	0.92[EUR][1000 genomes]
rs56152199	0.95[AFR][1000 genomes]
rs56323671	0.86[EUR][1000 genomes]
rs56347149	0.89[EUR][1000 genomes]
rs56348767	0.91[EUR][1000 genomes]
rs56389222	0.91[EUR][1000 genomes]
rs56404261	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57220817	0.92[EUR][1000 genomes]
rs58549165	0.92[EUR][1000 genomes]
rs58745414	0.92[EUR][1000 genomes]
rs58770834	0.89[EUR][1000 genomes]
rs58860566	0.90[EUR][1000 genomes]
rs60502114	0.90[EUR][1000 genomes]
rs61475520	0.90[EUR][1000 genomes]
rs62051139	0.94[AFR][1000 genomes]
rs62051486	0.87[EUR][1000 genomes]
rs62051488	0.87[EUR][1000 genomes]
rs62051497	0.81[EUR][1000 genomes]
rs62052877	0.90[EUR][1000 genomes]
rs62052878	0.89[EUR][1000 genomes]
rs62052879	0.90[EUR][1000 genomes]
rs62052880	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62052881	0.90[EUR][1000 genomes]
rs62052888	0.90[EUR][1000 genomes]
rs62052890	0.92[EUR][1000 genomes]
rs62052891	0.92[EUR][1000 genomes]
rs62052894	0.83[EUR][1000 genomes]
rs62052895	0.92[EUR][1000 genomes]
rs62052909	0.92[EUR][1000 genomes]
rs62052911	0.92[EUR][1000 genomes]
rs62052915	0.88[EUR][1000 genomes]
rs62052920	0.90[EUR][1000 genomes]
rs62052921	0.90[EUR][1000 genomes]
rs62052923	0.82[EUR][1000 genomes]
rs62052927	0.89[EUR][1000 genomes]
rs62052954	0.89[EUR][1000 genomes]
rs62054469	0.87[EUR][1000 genomes]
rs62054470	0.87[EUR][1000 genomes]
rs7188640	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7189331	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7192221	0.89[EUR][1000 genomes]
rs7193177	0.92[EUR][1000 genomes]
rs7194470	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7194533	0.97[AFR][1000 genomes]
rs7198233	0.91[EUR][1000 genomes]
rs7198431	0.95[EUR][1000 genomes]
rs7198788	0.89[EUR][1000 genomes]
rs7199970	0.89[EUR][1000 genomes]
rs7205109	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs72793252	0.90[EUR][1000 genomes]
rs72793263	0.91[EUR][1000 genomes]
rs72793266	0.90[EUR][1000 genomes]
rs72793271	0.90[EUR][1000 genomes]
rs8046070	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8046749	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8047866	0.86[AFR][1000 genomes]
rs8048181	0.85[EUR][1000 genomes]
rs8048832	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs8050815	0.89[EUR][1000 genomes]
rs8057278	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8059626	0.83[EUR][1000 genomes]
rs8064129	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806734	0.97[YRI][hapmap]
rs806745	0.81[AMR][1000 genomes]
rs877641	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9302637	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9630625	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9922217	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9924296	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9925470	0.90[EUR][1000 genomes]
rs9936195	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs999697	0.89[EUR][1000 genomes]
rs999698	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1057127	chr16:72375524-72509686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv542949	chr16:72375524-72509686	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1055807	chr16:72418417-72614308	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv572956	chr16:72426448-72517014	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv523524	chr16:72464460-72635674	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1055142	chr16:72473520-72627783	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv542950	chr16:72473520-72627783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72489600-72508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72494600-72516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:72499200-72505000	Weak transcription	Primary B cells from cord blood	blood
4	chr16:72499800-72508600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:72503000-72507200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:72503000-72507600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:72503000-72508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:72503600-72505000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:72503800-72504600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:72503800-72504800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72504000-72504800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:72504000-72507800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:72504200-72504400	Flanking Active TSS	HepG2	liver
14	chr16:72504200-72509600	Weak transcription	Fetal Heart	heart

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