Variant report

Variant	rs2642427
Chromosome Location	chr1:221000872-221000873
allele	C/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	chr1:221000821-221001027	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000238078	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2642431	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642449	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2807840	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2807841	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2807846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2807847	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2807849	0.94[EUR][1000 genomes];0.92[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220980400-221001400	Weak transcription	Gastric	stomach
2	chr1:220984200-221001400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:220984600-221006600	Weak transcription	Psoas Muscle	Psoas
4	chr1:220987600-221003800	Weak transcription	HepG2	liver
5	chr1:220990000-221001200	Weak transcription	Hela-S3	cervix
6	chr1:220992000-221002600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:220992800-221001200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:220993200-221001000	Weak transcription	Ovary	ovary
9	chr1:220993400-221001000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:220995000-221001000	Weak transcription	Right Atrium	heart
11	chr1:220995600-221005400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:220996000-221001400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:220997400-221003400	Enhancers	Liver	Liver
14	chr1:220998000-221001600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:220998200-221001600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:220998200-221004200	Weak transcription	Aorta	Aorta
17	chr1:220999200-221002800	Enhancers	Fetal Lung	lung
18	chr1:220999200-221003600	Enhancers	Fetal Heart	heart
19	chr1:220999600-221001800	Enhancers	Lung	lung
20	chr1:220999800-221001400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:220999800-221002200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:220999800-221002600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:221000000-221001000	Weak transcription	Left Ventricle	heart
24	chr1:221000000-221001200	Weak transcription	Adipose Nuclei	Adipose
25	chr1:221000000-221001400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:221000000-221002200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:221000200-221001200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:221000200-221001800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:221000400-221001200	Weak transcription	Placenta	Placenta
30	chr1:221000400-221001600	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:221000600-221001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:221000800-221001400	Enhancers	HUVEC	blood vessel
33	chr1:221000800-221001600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:221000800-221001600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:221000800-221001600	Enhancers	Stomach Mucosa	stomach
36	chr1:221000800-221001800	Enhancers	Spleen	Spleen
37	chr1:221000800-221002000	Enhancers	Fetal Intestine Small	intestine
38	chr1:221000800-221002600	Enhancers	Fetal Intestine Large	intestine
39	chr1:221000800-221002800	Enhancers	Right Ventricle	heart

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