Variant report

Variant	rs1447046
Chromosome Location	chr4:56764593-56764594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10027680	0.81[EUR][1000 genomes]
rs11935692	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103032	0.81[EUR][1000 genomes]
rs13117307	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13147883	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447045	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1816932	0.97[ASN][1000 genomes]
rs2121516	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28452073	0.81[EUR][1000 genomes]
rs35227303	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353052	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749781	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968386	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv879024	chr4:56742205-56786589	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879025	chr4:56742205-56808607	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
3	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
4	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:56735000-56768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
9	chr4:56738000-56771400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:56745800-56772800	Weak transcription	Small Intestine	intestine
11	chr4:56747800-56772800	Weak transcription	NHEK	skin
12	chr4:56748000-56770000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:56748000-56772000	Weak transcription	NHLF	lung
14	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:56748200-56773400	Weak transcription	Gastric	stomach
16	chr4:56748400-56765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:56748400-56770200	Weak transcription	HepG2	liver
18	chr4:56748600-56765800	Weak transcription	Lung	lung
19	chr4:56748600-56766000	Weak transcription	Ovary	ovary
20	chr4:56748600-56767200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:56748600-56768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
23	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
25	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:56751000-56770200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:56751400-56776200	Weak transcription	A549	lung
28	chr4:56753800-56767400	Strong transcription	HSMM	muscle
29	chr4:56754800-56765200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr4:56754800-56769600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:56754800-56772800	Strong transcription	Placenta	Placenta
32	chr4:56755000-56770800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:56755800-56772000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr4:56755800-56772200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:56756000-56765200	Strong transcription	Fetal Thymus	thymus
36	chr4:56756000-56767600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:56756000-56769200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:56756000-56773200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:56756600-56773200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:56757200-56766600	Strong transcription	Adipose Nuclei	Adipose
41	chr4:56758000-56772800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:56758600-56773200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:56758800-56772800	Strong transcription	Liver	Liver
44	chr4:56759000-56764800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:56759200-56770400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:56759600-56764800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:56760200-56771600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:56760200-56772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:56760200-56773600	Weak transcription	Placenta Amnion	Placenta Amnion

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