Variant report

Variant	rs7524739
Chromosome Location	chr1:153952598-153952599
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153952540-153952686	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
JTB	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10127983	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1043608	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10559	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10796968	0.85[ASN][1000 genomes]
rs10908557	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908558	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1110165	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11264532	0.86[ASN][1000 genomes]
rs11264559	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11264567	0.80[ASN][1000 genomes]
rs11264619	0.88[ASN][1000 genomes]
rs11264620	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11264680	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264734	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11264743	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264763	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11577942	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11581644	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11586075	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11586593	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11586830	0.86[ASN][1000 genomes]
rs11587151	0.82[ASN][1000 genomes]
rs11589043	0.86[ASN][1000 genomes]
rs11589857	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11590099	0.82[ASN][1000 genomes]
rs11591134	0.86[ASN][1000 genomes]
rs12022158	0.86[ASN][1000 genomes]
rs12022730	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12023699	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027783	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12028398	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12032914	0.88[ASN][1000 genomes]
rs12033835	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12041850	0.81[ASN][1000 genomes]
rs12041920	0.82[ASN][1000 genomes]
rs12042562	0.86[ASN][1000 genomes]
rs12042989	0.82[ASN][1000 genomes]
rs12043350	0.86[ASN][1000 genomes]
rs12401565	0.86[ASN][1000 genomes]
rs12403956	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12406003	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12409811	0.83[ASN][1000 genomes]
rs12564669	0.81[EUR][1000 genomes]
rs12567313	0.82[ASN][1000 genomes]
rs1547766	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1547767	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1572788	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34805562	0.82[ASN][1000 genomes]
rs3748848	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3748849	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3791187	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845357	0.88[ASN][1000 genomes]
rs4845358	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4845583	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4845585	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58095661	0.88[ASN][1000 genomes]
rs59308681	0.82[ASN][1000 genomes]
rs59678326	0.82[ASN][1000 genomes]
rs60150125	0.86[ASN][1000 genomes]
rs61219911	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6427329	0.86[ASN][1000 genomes]
rs6659220	0.86[ASN][1000 genomes]
rs6666703	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671132	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6680140	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6694061	0.82[ASN][1000 genomes]
rs6724	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7537691	0.86[ASN][1000 genomes]
rs8450	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs946682	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153950600-153953000	Weak transcription	Lung	lung
2	chr1:153950600-153953400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:153950800-153952600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:153950800-153954400	Weak transcription	Gastric	stomach
5	chr1:153950800-153954600	Weak transcription	Aorta	Aorta
6	chr1:153950800-153957200	Weak transcription	HSMM	muscle
7	chr1:153950800-153957400	Weak transcription	Stomach Mucosa	stomach
8	chr1:153950800-153957600	Weak transcription	Ovary	ovary
9	chr1:153950800-153957800	Weak transcription	Esophagus	oesophagus
10	chr1:153950800-153958000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:153950800-153958000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:153951000-153952800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:153951000-153952800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:153951000-153953000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:153951000-153953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:153951000-153953200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:153951000-153953200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:153951000-153953400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:153951000-153953600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:153951000-153953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:153951000-153953800	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:153951000-153954400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:153951000-153954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:153951000-153954400	Weak transcription	Left Ventricle	heart
25	chr1:153951000-153956000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:153951000-153957000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:153951000-153957200	Weak transcription	Colonic Mucosa	Colon
28	chr1:153951000-153957200	Weak transcription	Pancreas	Pancrea
29	chr1:153951000-153957600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:153951000-153957800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:153951200-153952600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:153951200-153953000	Weak transcription	Spleen	Spleen
33	chr1:153951200-153953200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:153951200-153953200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:153951200-153953600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:153951200-153953600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:153951200-153953600	Weak transcription	Adipose Nuclei	Adipose
38	chr1:153951200-153953600	Weak transcription	NH-A	brain
39	chr1:153951200-153953800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:153951200-153953800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:153951200-153954600	Weak transcription	HUVEC	blood vessel
42	chr1:153951200-153956800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:153951200-153956800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:153951200-153956800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:153951200-153956800	Weak transcription	Brain Substantia Nigra	brain
46	chr1:153951200-153956800	Weak transcription	Fetal Kidney	kidney
47	chr1:153951200-153957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:153951200-153957000	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:153951200-153957000	Weak transcription	HSMMtube	muscle
50	chr1:153951200-153957200	Weak transcription	Right Ventricle	heart

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