Variant report

Variant	rs72787078
Chromosome Location	chr16:72158493-72158494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11640722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11641424	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11641721	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11645898	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11646364	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11647889	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11648479	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17603936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28419077	0.92[EUR][1000 genomes]
rs34656481	0.83[EUR][1000 genomes]
rs34832584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35370634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3812985	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3852780	0.92[ASN][1000 genomes]
rs3852785	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4788459	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788463	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4788605	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4788614	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788615	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5468	0.84[ASN][1000 genomes]
rs55824906	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55955726	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7206422	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787042	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72787046	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72787056	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72787060	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72787062	0.92[ASN][1000 genomes]
rs72787070	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72787091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72787093	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72787094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72791112	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72791115	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72791117	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72791120	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72791121	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7499467	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8047881	0.87[EUR][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:71 , 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	chr16:72146800-72158600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:72146800-72159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:72146800-72159200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:72147000-72158600	Weak transcription	Ovary	ovary
12	chr16:72147000-72158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:72147000-72158800	Weak transcription	Brain Angular Gyrus	brain
14	chr16:72147000-72159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr16:72147000-72172200	Weak transcription	Dnd41	blood
17	chr16:72147200-72158600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:72147200-72158600	Weak transcription	Brain Substantia Nigra	brain
19	chr16:72147200-72158600	Weak transcription	GM12878-XiMat	blood
20	chr16:72147200-72158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:72147200-72159000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:72147200-72159000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:72147200-72159000	Weak transcription	Fetal Lung	lung
24	chr16:72147200-72159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:72147400-72158600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:72147400-72158800	Weak transcription	Fetal Thymus	thymus
27	chr16:72147400-72159000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:72147400-72159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:72147400-72159000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:72147400-72159000	Weak transcription	Fetal Brain Female	brain
31	chr16:72147400-72159000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:72147400-72159200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:72147400-72159200	Weak transcription	Pancreas	Pancrea
34	chr16:72147400-72162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:72147400-72164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:72147600-72158600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:72147600-72158800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:72147600-72159000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:72147600-72159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:72147600-72159000	Weak transcription	Colonic Mucosa	Colon
41	chr16:72147600-72159200	Weak transcription	Lung	lung
42	chr16:72147600-72165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr16:72147800-72158600	Weak transcription	Brain Anterior Caudate	brain
44	chr16:72147800-72158600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr16:72147800-72158600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:72147800-72159000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:72147800-72159600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:72147800-72170000	Weak transcription	Thymus	Thymus
49	chr16:72148000-72158600	Weak transcription	Brain Germinal Matrix	brain
50	chr16:72148200-72158600	Weak transcription	Placenta	Placenta

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