Variant report

Variant	rs8060770
Chromosome Location	chr16:72155694-72155695
allele	A/C
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: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10492813	0.83[ASN][1000 genomes]
rs10492814	0.84[ASN][1000 genomes]
rs1050361	0.84[ASN][1000 genomes]
rs1050363	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10852511	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11075922	0.82[ASN][1000 genomes]
rs11862813	0.85[ASN][1000 genomes]
rs12162087	0.82[EUR][1000 genomes]
rs12708925	0.83[ASN][1000 genomes]
rs12917999	0.85[EUR][1000 genomes]
rs12918956	0.83[EUR][1000 genomes]
rs12924413	0.84[ASN][1000 genomes]
rs12928365	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12930702	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12932845	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12935266	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs16973716	0.83[ASN][1000 genomes]
rs2070937	0.85[EUR][1000 genomes]
rs2072141	0.85[ASN][1000 genomes]
rs2241411	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2269918	0.84[ASN][1000 genomes]
rs2303285	0.84[ASN][1000 genomes]
rs3764311	0.84[ASN][1000 genomes]
rs3764314	0.84[ASN][1000 genomes]
rs3812984	0.81[EUR][1000 genomes]
rs3812986	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3844425	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3852781	0.84[ASN][1000 genomes]
rs3852782	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3852784	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890860	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3909541	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3909542	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788458	0.85[EUR][1000 genomes]
rs4788461	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788464	0.84[EUR][1000 genomes]
rs4788609	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788610	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499557	0.84[EUR][1000 genomes]
rs6499562	0.81[ASN][1000 genomes]
rs6499563	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499564	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7185840	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7186155	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7188962	0.84[EUR][1000 genomes]
rs7189115	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7189591	0.84[EUR][1000 genomes]
rs7190994	0.84[EUR][1000 genomes]
rs7194397	0.84[ASN][1000 genomes]
rs7194668	0.83[ASN][1000 genomes]
rs7197020	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7199261	0.83[EUR][1000 genomes]
rs7200003	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7200854	0.84[EUR][1000 genomes]
rs7201643	0.84[EUR][1000 genomes]
rs7201866	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7202268	0.85[EUR][1000 genomes]
rs7203426	0.85[EUR][1000 genomes]
rs7203821	0.84[EUR][1000 genomes]
rs7940	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8043606	0.87[ASN][1000 genomes]
rs8052408	0.82[ASN][1000 genomes]
rs8059437	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8182213	0.84[EUR][1000 genomes]
rs9924964	0.89[EUR][1000 genomes]
rs9926927	0.84[ASN][1000 genomes]
rs9927526	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9928157	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9930890	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9932062	0.87[ASN][1000 genomes]
rs9932951	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9936784	0.81[EUR][1000 genomes]
rs9938382	0.82[EUR][1000 genomes]
rs9941346	0.87[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	chr16:72145800-72156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:72145800-72160400	Weak transcription	HMEC	breast
4	chr16:72146400-72158600	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:72146400-72159000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:72146600-72159000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:72146600-72159200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:72146600-72166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:72146800-72158400	Weak transcription	HepG2	liver
10	chr16:72146800-72158600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:72146800-72159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:72146800-72159200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:72147000-72158600	Weak transcription	Ovary	ovary
14	chr16:72147000-72158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:72147000-72158800	Weak transcription	Brain Angular Gyrus	brain
16	chr16:72147000-72159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr16:72147000-72172200	Weak transcription	Dnd41	blood
19	chr16:72147200-72158600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:72147200-72158600	Weak transcription	Brain Substantia Nigra	brain
21	chr16:72147200-72158600	Weak transcription	GM12878-XiMat	blood
22	chr16:72147200-72158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:72147200-72159000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:72147200-72159000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:72147200-72159000	Weak transcription	Fetal Lung	lung
26	chr16:72147200-72159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:72147400-72158200	Weak transcription	Spleen	Spleen
28	chr16:72147400-72158600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:72147400-72158800	Weak transcription	Fetal Thymus	thymus
30	chr16:72147400-72159000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr16:72147400-72159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:72147400-72159000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:72147400-72159000	Weak transcription	Fetal Brain Female	brain
34	chr16:72147400-72159000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:72147400-72159200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:72147400-72159200	Weak transcription	Pancreas	Pancrea
37	chr16:72147400-72162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:72147400-72164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:72147600-72158400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr16:72147600-72158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:72147600-72158600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:72147600-72158800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr16:72147600-72159000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:72147600-72159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:72147600-72159000	Weak transcription	Colonic Mucosa	Colon
46	chr16:72147600-72159200	Weak transcription	Lung	lung
47	chr16:72147600-72165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr16:72147800-72157200	Weak transcription	Fetal Intestine Small	intestine
49	chr16:72147800-72157200	Weak transcription	Fetal Stomach	stomach
50	chr16:72147800-72158000	Weak transcription	Primary T cells from cord blood	blood

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