Variant report

Variant	rs72723739
Chromosome Location	chr4:152095311-152095312
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs55644104	1.00[AMR][1000 genomes]
rs55744848	1.00[EUR][1000 genomes]
rs55752281	1.00[AMR][1000 genomes]
rs56085192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56241356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385344	1.00[AMR][1000 genomes]
rs72719682	1.00[AMR][1000 genomes]
rs72719683	1.00[AMR][1000 genomes]
rs72719692	1.00[AMR][1000 genomes]
rs72719693	1.00[AMR][1000 genomes]
rs72719695	1.00[AMR][1000 genomes]
rs72721703	1.00[AMR][1000 genomes]
rs72721704	1.00[AMR][1000 genomes]
rs72721706	1.00[AMR][1000 genomes]
rs72721708	1.00[AMR][1000 genomes]
rs72721716	1.00[AMR][1000 genomes]
rs72721719	1.00[AMR][1000 genomes]
rs72721721	1.00[AMR][1000 genomes]
rs72721722	1.00[AMR][1000 genomes]
rs72721726	1.00[AMR][1000 genomes]
rs72721728	1.00[AMR][1000 genomes]
rs72721731	1.00[AMR][1000 genomes]
rs72721732	1.00[AMR][1000 genomes]
rs72721733	1.00[AMR][1000 genomes]
rs72721734	1.00[AMR][1000 genomes]
rs72721739	1.00[AMR][1000 genomes]
rs72721745	1.00[AMR][1000 genomes]
rs72721755	1.00[AMR][1000 genomes]
rs72721758	1.00[AMR][1000 genomes]
rs72721759	1.00[AMR][1000 genomes]
rs72721765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72721802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723763	1.00[EUR][1000 genomes]
rs72723765	1.00[EUR][1000 genomes]
rs72723778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
2	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
3	chr4:152055000-152105800	Weak transcription	Small Intestine	intestine
4	chr4:152066200-152095800	Weak transcription	Gastric	stomach
5	chr4:152066400-152095800	Weak transcription	Aorta	Aorta
6	chr4:152079400-152095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:152082400-152095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:152084400-152095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:152084400-152095800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:152085400-152095400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:152087600-152095400	Weak transcription	Right Atrium	heart
12	chr4:152088000-152096200	Weak transcription	A549	lung
13	chr4:152088000-152101600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:152088200-152095800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:152088200-152114600	Weak transcription	Psoas Muscle	Psoas
16	chr4:152089200-152095400	Weak transcription	Lung	lung
17	chr4:152089200-152097800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr4:152089200-152098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:152089800-152095600	Enhancers	Colon Smooth Muscle	Colon
20	chr4:152090200-152096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:152090400-152105800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:152090600-152097600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:152090800-152095400	Weak transcription	Right Ventricle	heart
24	chr4:152090800-152095800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:152090800-152096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:152091000-152095600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:152091200-152103800	Weak transcription	Fetal Brain Male	brain
28	chr4:152091200-152107000	Weak transcription	HSMMtube	muscle
29	chr4:152091400-152095600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:152091400-152095600	Weak transcription	Osteobl	bone
31	chr4:152091600-152095800	Weak transcription	NHEK	skin
32	chr4:152092000-152098400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr4:152092200-152097200	Weak transcription	Fetal Kidney	kidney
34	chr4:152092400-152095400	Weak transcription	Brain Anterior Caudate	brain
35	chr4:152092600-152098000	Strong transcription	HUVEC	blood vessel
36	chr4:152092600-152098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:152092800-152095400	Weak transcription	Brain Substantia Nigra	brain
38	chr4:152092800-152098400	Strong transcription	NH-A	brain
39	chr4:152093200-152098400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr4:152093400-152097800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:152093400-152097800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:152093400-152098200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:152093400-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:152093400-152098600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:152093600-152096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:152093600-152096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:152093600-152096400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:152093600-152096800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:152093600-152098400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:152093800-152095400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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