Variant report

Variant	rs11860163
Chromosome Location	chr16:75524350-75524351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75521916..75524475-chr16:75547369..75550310,2	K562	blood:
2	chr16:75523790..75524565-chr16:75542425..75543396,2	K562	blood:
3	chr16:75523373..75525274-chr16:75540310..75541821,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262583	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11860309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35197539	0.85[AMR][1000 genomes]
rs455579	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs459211	1.00[AMR][1000 genomes]
rs55722812	0.87[AMR][1000 genomes]
rs56071952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56791151	0.87[AMR][1000 genomes]
rs56995694	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57155217	0.87[AMR][1000 genomes]
rs57543848	0.87[AMR][1000 genomes]
rs57738876	0.87[AMR][1000 genomes]
rs57768222	0.87[AMR][1000 genomes]
rs57829605	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58669977	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58986524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59034986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575876	0.87[AMR][1000 genomes]
rs60159223	0.87[AMR][1000 genomes]
rs60407291	0.87[AMR][1000 genomes]
rs60562747	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60704421	0.87[AMR][1000 genomes]
rs60994854	1.00[AMR][1000 genomes]
rs6564263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564264	0.87[AMR][1000 genomes]
rs7184132	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186203	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188429	0.87[AMR][1000 genomes]
rs7189782	0.87[AMR][1000 genomes]
rs7189978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192958	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194322	0.87[AMR][1000 genomes]
rs7194947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206077	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610885	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610887	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610898	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612804	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612809	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612838	0.87[AMR][1000 genomes]
rs74027405	0.87[AMR][1000 genomes]
rs8048381	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8054411	1.00[AMR][1000 genomes]
rs8062862	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75507000-75525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr16:75512600-75525600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:75514000-75524800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:75514000-75525400	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:75514000-75528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:75514000-75528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:75514200-75525600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr16:75517200-75526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:75520200-75525600	Weak transcription	Hela-S3	cervix
10	chr16:75520200-75525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:75520400-75525600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:75520400-75528200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:75521000-75525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:75521000-75527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:75521200-75525600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:75521200-75525600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:75521200-75525600	Weak transcription	HMEC	breast
18	chr16:75521200-75525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:75521200-75526000	Weak transcription	NHEK	skin
20	chr16:75521200-75527000	Enhancers	GM12878-XiMat	blood
21	chr16:75521200-75528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:75521400-75525800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:75521400-75525800	Weak transcription	Placenta	Placenta
24	chr16:75522000-75527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:75522200-75525800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:75522400-75528000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:75523200-75524600	Weak transcription	Brain Substantia Nigra	brain
28	chr16:75523600-75525600	Weak transcription	Brain Anterior Caudate	brain
29	chr16:75523600-75525600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:75523800-75525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:75524000-75526000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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