Variant report

Variant	rs72744166
Chromosome Location	chr1:223214445-223214446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2066113	0.90[ASN][1000 genomes]
rs2789913	0.90[ASN][1000 genomes]
rs72744127	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744129	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744130	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72744147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72744150	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72744151	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72744152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744162	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72744168	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223205800-223214800	Weak transcription	Right Atrium	heart
2	chr1:223209400-223215400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:223211600-223219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:223211800-223214800	Weak transcription	Lung	lung
5	chr1:223211800-223215200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:223212000-223215800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:223212000-223225600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:223212200-223215000	Enhancers	Right Ventricle	heart
9	chr1:223212400-223214600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:223212600-223214600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:223213200-223215400	Enhancers	Colon Smooth Muscle	Colon
12	chr1:223213400-223215600	Enhancers	Left Ventricle	heart
13	chr1:223213400-223216000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:223213400-223218200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:223213600-223214800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:223213600-223214800	Enhancers	HepG2	liver
17	chr1:223213600-223215400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:223213800-223214800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:223213800-223215000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:223213800-223215200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:223213800-223217600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:223214000-223215200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:223214000-223218800	Weak transcription	Liver	Liver
24	chr1:223214400-223214600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:223214400-223215000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:223214400-223215200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:223214400-223215200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:223214400-223215200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:223214400-223215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:223214400-223215400	Enhancers	Aorta	Aorta
31	chr1:223214400-223215600	Enhancers	Fetal Heart	heart

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