Variant report

Variant	rs2279638
Chromosome Location	chr1:221001787-221001788
allele	A/G
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	MAX	chr1:221001522-221001941	HepG2	liver:	n/a	n/a
2	HNF4A	chr1:221001612-221001799	HepG2	liver:	n/a	chr1:221001698-221001713
3	MAX	chr1:221001425-221001994	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:221001581-221001823	HepG2	liver:	n/a	n/a
5	MAX	chr1:221001653-221001864	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000238078	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10495152	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863567	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863568	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118609	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118611	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11118615	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118616	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118619	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11590678	0.83[ASN][1000 genomes]
rs12057411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073837	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12089958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117818	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124030	0.83[ASN][1000 genomes]
rs12129004	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12139139	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145674	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335919	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1494368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494371	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1494372	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008806	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17596850	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17650107	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242358	0.89[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap]
rs2378425	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2642421	0.89[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap]
rs35730037	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4143773	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61830270	0.88[ASN][1000 genomes]
rs61830289	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6541161	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6668666	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6673877	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6693017	0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7530074	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7530176	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7530493	0.97[ASN][1000 genomes]
rs7544735	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7553447	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881995	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs903319	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs984676	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220984600-221006600	Weak transcription	Psoas Muscle	Psoas
2	chr1:220987600-221003800	Weak transcription	HepG2	liver
3	chr1:220992000-221002600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:220995600-221005400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:220997400-221003400	Enhancers	Liver	Liver
6	chr1:220998200-221004200	Weak transcription	Aorta	Aorta
7	chr1:220999200-221002800	Enhancers	Fetal Lung	lung
8	chr1:220999200-221003600	Enhancers	Fetal Heart	heart
9	chr1:220999600-221001800	Enhancers	Lung	lung
10	chr1:220999800-221002200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:220999800-221002600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:221000000-221002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:221000200-221001800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:221000800-221001800	Enhancers	Spleen	Spleen
15	chr1:221000800-221002000	Enhancers	Fetal Intestine Small	intestine
16	chr1:221000800-221002600	Enhancers	Fetal Intestine Large	intestine
17	chr1:221000800-221002800	Enhancers	Right Ventricle	heart
18	chr1:221001000-221001800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr1:221001000-221001800	Enhancers	Ovary	ovary
20	chr1:221001000-221003400	Enhancers	Left Ventricle	heart
21	chr1:221001000-221004200	Enhancers	Right Atrium	heart
22	chr1:221001000-221004800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:221001200-221001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:221001200-221001800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:221001200-221002000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:221001200-221002800	Enhancers	Adipose Nuclei	Adipose
27	chr1:221001200-221003200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr1:221001400-221001800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:221001400-221001800	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:221001400-221003000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:221001400-221003600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:221001400-221003800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:221001600-221001800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:221001600-221002000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:221001600-221003600	Enhancers	Colon Smooth Muscle	Colon
36	chr1:221001600-221003600	Enhancers	Rectal Smooth Muscle	rectum

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