Variant report

Variant	rs72787070
Chromosome Location	chr16:72151101-72151102
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:42)

rs_ID	r²[population]
rs11640722	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11641424	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11641721	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645898	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11646364	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11647889	0.84[AMR][1000 genomes]
rs11648479	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17603936	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28419077	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34656481	0.84[EUR][1000 genomes]
rs34832584	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35370634	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3812985	0.93[EUR][1000 genomes]
rs3852780	0.84[ASN][1000 genomes]
rs3852785	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4788459	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788463	0.89[AMR][1000 genomes]
rs4788605	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788611	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788614	0.92[EUR][1000 genomes]
rs4788615	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55824906	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55955726	0.83[AMR][1000 genomes]
rs7206422	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787042	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72787046	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72787056	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72787060	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72787062	0.84[ASN][1000 genomes]
rs72787077	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787078	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787085	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72787091	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787093	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787094	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72791112	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72791115	0.84[EUR][1000 genomes]
rs72791117	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72791120	0.89[AMR][1000 genomes]
rs72791121	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7499467	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8047881	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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:77 , 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	chr16:72143000-72152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:72145800-72152600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:72145800-72156000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:72145800-72160400	Weak transcription	HMEC	breast
6	chr16:72146400-72158600	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:72146400-72159000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:72146600-72152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:72146600-72154600	Weak transcription	HUVEC	blood vessel
10	chr16:72146600-72155000	Weak transcription	Stomach Mucosa	stomach
11	chr16:72146600-72159000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:72146600-72159200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:72146600-72166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:72146800-72158400	Weak transcription	HepG2	liver
15	chr16:72146800-72158600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:72146800-72159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr16:72146800-72159200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:72147000-72155600	Weak transcription	NHEK	skin
19	chr16:72147000-72158600	Weak transcription	Ovary	ovary
20	chr16:72147000-72158800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:72147000-72158800	Weak transcription	Brain Angular Gyrus	brain
22	chr16:72147000-72159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:72147000-72172200	Weak transcription	Dnd41	blood
25	chr16:72147200-72158600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:72147200-72158600	Weak transcription	Brain Substantia Nigra	brain
27	chr16:72147200-72158600	Weak transcription	GM12878-XiMat	blood
28	chr16:72147200-72158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:72147200-72159000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:72147200-72159000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:72147200-72159000	Weak transcription	Fetal Lung	lung
32	chr16:72147200-72159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:72147400-72158200	Weak transcription	Spleen	Spleen
34	chr16:72147400-72158600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:72147400-72158800	Weak transcription	Fetal Thymus	thymus
36	chr16:72147400-72159000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:72147400-72159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:72147400-72159000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr16:72147400-72159000	Weak transcription	Fetal Brain Female	brain
40	chr16:72147400-72159000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:72147400-72159200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:72147400-72159200	Weak transcription	Pancreas	Pancrea
43	chr16:72147400-72162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr16:72147400-72164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:72147600-72152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:72147600-72153000	Weak transcription	Gastric	stomach
47	chr16:72147600-72153400	Weak transcription	NHLF	lung
48	chr16:72147600-72158400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:72147600-72158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:72147600-72158600	Weak transcription	Primary hematopoietic stem cells	blood

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