Variant report

Variant	rs8061459
Chromosome Location	chr16:72156063-72156064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72144493..72146152-chr16:72155235..72157719,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10400963	0.81[ASN][1000 genomes]
rs1050362	0.90[ASN][1000 genomes]
rs10852511	0.84[AFR][1000 genomes]
rs11075922	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12325142	0.93[ASN][1000 genomes]
rs12444701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445401	0.87[ASN][1000 genomes]
rs12445586	0.90[ASN][1000 genomes]
rs12448315	0.88[ASN][1000 genomes]
rs12449073	0.81[ASN][1000 genomes]
rs12708926	0.90[ASN][1000 genomes]
rs12708927	0.90[ASN][1000 genomes]
rs12708928	0.93[ASN][1000 genomes]
rs12928732	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12929749	0.81[ASN][1000 genomes]
rs12933838	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13334151	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16973716	0.90[ASN][1000 genomes]
rs2072142	0.92[ASN][1000 genomes]
rs2074626	0.93[ASN][1000 genomes]
rs2074627	0.93[ASN][1000 genomes]
rs2240243	0.93[ASN][1000 genomes]
rs2241412	0.93[ASN][1000 genomes]
rs2287997	0.92[ASN][1000 genomes]
rs28432692	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2854956	0.89[ASN][1000 genomes]
rs34714490	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35460163	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35959677	0.92[EUR][1000 genomes]
rs3764312	0.90[ASN][1000 genomes]
rs3812987	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3902135	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3909543	0.82[ASN][1000 genomes]
rs4238964	0.83[ASN][1000 genomes]
rs56960650	0.86[ASN][1000 genomes]
rs57186116	0.85[ASN][1000 genomes]
rs6416742	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6499559	0.92[ASN][1000 genomes]
rs6499560	0.92[ASN][1000 genomes]
rs6499561	0.85[ASN][1000 genomes]
rs6499562	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6680	0.93[ASN][1000 genomes]
rs7184169	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188058	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7190995	0.90[ASN][1000 genomes]
rs7191127	0.90[ASN][1000 genomes]
rs7192730	0.90[ASN][1000 genomes]
rs7198572	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8044555	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8044868	0.88[ASN][1000 genomes]
rs8045481	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8047377	0.93[ASN][1000 genomes]
rs8050238	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8051882	0.93[ASN][1000 genomes]
rs8052338	0.82[ASN][1000 genomes]
rs8052408	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8054585	0.80[EUR][1000 genomes]
rs8058609	0.87[ASN][1000 genomes]
rs8059378	0.89[ASN][1000 genomes]
rs8061282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923344	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9925763	0.93[ASN][1000 genomes]
rs9926156	0.93[ASN][1000 genomes]
rs9933009	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9941087	0.89[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	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	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	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
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72142800-72158600	Weak transcription	Fetal Brain Male	brain
2	chr16:72145800-72160400	Weak transcription	HMEC	breast
3	chr16:72146400-72158600	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:72146400-72159000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:72146600-72159000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:72146600-72159200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:72146600-72166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:72146800-72158400	Weak transcription	HepG2	liver
9	chr16:72146800-72158600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr16:72146800-72159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr16:72146800-72159200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:72147000-72158600	Weak transcription	Ovary	ovary
13	chr16:72147000-72158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:72147000-72158800	Weak transcription	Brain Angular Gyrus	brain
15	chr16:72147000-72159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:72147000-72172200	Weak transcription	Dnd41	blood
18	chr16:72147200-72158600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:72147200-72158600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:72147200-72158600	Weak transcription	GM12878-XiMat	blood
21	chr16:72147200-72158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:72147200-72159000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr16:72147200-72159000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:72147200-72159000	Weak transcription	Fetal Lung	lung
25	chr16:72147200-72159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:72147400-72158200	Weak transcription	Spleen	Spleen
27	chr16:72147400-72158600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:72147400-72158800	Weak transcription	Fetal Thymus	thymus
29	chr16:72147400-72159000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr16:72147400-72159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:72147400-72159000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:72147400-72159000	Weak transcription	Fetal Brain Female	brain
33	chr16:72147400-72159000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:72147400-72159200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:72147400-72159200	Weak transcription	Pancreas	Pancrea
36	chr16:72147400-72162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:72147400-72164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:72147600-72158400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:72147600-72158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:72147600-72158600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:72147600-72158800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:72147600-72159000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:72147600-72159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:72147600-72159000	Weak transcription	Colonic Mucosa	Colon
45	chr16:72147600-72159200	Weak transcription	Lung	lung
46	chr16:72147600-72165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:72147800-72157200	Weak transcription	Fetal Intestine Small	intestine
48	chr16:72147800-72157200	Weak transcription	Fetal Stomach	stomach
49	chr16:72147800-72158000	Weak transcription	Primary T cells from cord blood	blood
50	chr16:72147800-72158400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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