Variant report

Variant	rs72967545
Chromosome Location	chr4:152159726-152159727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12503016	0.92[ASN][1000 genomes]
rs12504166	0.98[ASN][1000 genomes]
rs12508270	0.83[ASN][1000 genomes]
rs12510153	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12511209	0.93[ASN][1000 genomes]
rs17633530	0.93[ASN][1000 genomes]
rs17633537	0.93[ASN][1000 genomes]
rs17633600	0.98[ASN][1000 genomes]
rs17633648	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17633654	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58496896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59944801	0.99[ASN][1000 genomes]
rs60212468	0.99[ASN][1000 genomes]
rs60367453	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60761330	1.00[ASN][1000 genomes]
rs61442068	0.81[ASN][1000 genomes]
rs7671332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681468	0.81[ASN][1000 genomes]
rs7699574	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	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
8	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
9	nsv870229	chr4:152114410-152161072	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152129000-152168000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:152129400-152167800	Weak transcription	Right Ventricle	heart
3	chr4:152130200-152187800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:152141000-152167400	Weak transcription	HepG2	liver
5	chr4:152144800-152163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:152147200-152160200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:152148000-152164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:152148200-152163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:152149200-152172000	Weak transcription	Left Ventricle	heart
10	chr4:152149200-152185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:152149600-152173000	Weak transcription	Right Atrium	heart
13	chr4:152152400-152159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:152155000-152159800	Weak transcription	Ovary	ovary
15	chr4:152156000-152179800	Weak transcription	Fetal Stomach	stomach
16	chr4:152156200-152163400	Weak transcription	Fetal Heart	heart
17	chr4:152157600-152167800	Weak transcription	Fetal Intestine Large	intestine
18	chr4:152158200-152160000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:152158400-152161600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:152158400-152161800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:152158400-152162800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:152158400-152163200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:152158400-152163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:152158800-152163600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:152158800-152164000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:152158800-152178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:152158800-152181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:152159000-152161000	Enhancers	Brain Anterior Caudate	brain
29	chr4:152159200-152159800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:152159200-152160600	Enhancers	Brain Hippocampus Middle	brain
31	chr4:152159600-152160200	Enhancers	Adipose Nuclei	Adipose
32	chr4:152159600-152160400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr4:152159600-152160400	Enhancers	Fetal Lung	lung
34	chr4:152159600-152160600	Enhancers	Brain Angular Gyrus	brain
35	chr4:152159600-152160600	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:152159600-152160600	Enhancers	Brain Substantia Nigra	brain
37	chr4:152159600-152160600	Enhancers	Colon Smooth Muscle	Colon
38	chr4:152159600-152160800	Enhancers	Cortex derived primary cultured neurospheres	brain

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