Variant report

Variant	rs8059645
Chromosome Location	chr16:69874709-69874710
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69874565..69877558-chr16:69877782..69880271,3	K562	blood:
2	chr16:69869109..69872856-chr16:69873107..69875880,4	K562	blood:
3	chr16:69873369..69876292-chr16:69876503..69878769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11075734	0.87[ASW][hapmap];0.93[LWK][hapmap];0.86[YRI][hapmap]
rs11075738	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075739	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11641899	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11643817	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11645565	0.83[EUR][1000 genomes]
rs12447095	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12447914	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16959200	0.89[YRI][hapmap]
rs2173714	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34378064	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3790085	0.91[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs3790086	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs4275849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4341733	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985374	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985418	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985445	0.98[ASN][1000 genomes]
rs4985446	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60941540	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62051384	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62051387	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62051389	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499257	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68039170	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7193221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7194806	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7196917	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7200005	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs7202223	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]
rs7206585	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043925	0.84[TSI][hapmap]
rs8044920	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8052428	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs8057620	0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs8063219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9630631	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:69833800-69875600	Weak transcription	NHEK	skin
3	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:69846600-69875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:69852000-69893200	Weak transcription	K562	blood
8	chr16:69853200-69875000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:69853200-69878400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:69853400-69880000	Weak transcription	Hela-S3	cervix
11	chr16:69855200-69875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:69855400-69874800	Weak transcription	Brain Germinal Matrix	brain
13	chr16:69855600-69877000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:69856200-69875200	Weak transcription	Fetal Brain Female	brain
15	chr16:69865000-69875400	Weak transcription	Esophagus	oesophagus
16	chr16:69865000-69887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:69865200-69875400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:69865200-69879000	Weak transcription	NHLF	lung
19	chr16:69865400-69874800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr16:69865600-69881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:69867000-69888400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:69867400-69881800	Weak transcription	NHDF-Ad	bronchial
23	chr16:69867600-69875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:69867800-69875600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:69867800-69877400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:69867800-69879000	Weak transcription	Osteobl	bone
27	chr16:69867800-69881800	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:69868000-69881800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:69868000-69885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:69868000-69888800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:69868200-69875200	Weak transcription	Spleen	Spleen
32	chr16:69868200-69876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:69868200-69878000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:69868200-69878600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:69868200-69880600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:69868200-69881800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:69868200-69884800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:69868200-69885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:69868200-69892800	Weak transcription	A549	lung
40	chr16:69868600-69879600	Strong transcription	Primary B cells from cord blood	blood
41	chr16:69868800-69888400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr16:69869000-69878000	Weak transcription	GM12878-XiMat	blood
43	chr16:69869000-69878200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:69869000-69879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:69869200-69874800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:69870000-69874800	Enhancers	Fetal Muscle Leg	muscle
47	chr16:69870200-69875200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr16:69871000-69879600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:69871200-69884600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr16:69871200-69885000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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