Variant report

Variant	rs1416691
Chromosome Location	chr1:223212973-223212974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11485986	1.00[EUR][1000 genomes]
rs11488545	1.00[EUR][1000 genomes]
rs11488546	1.00[EUR][1000 genomes]
rs11488550	1.00[EUR][1000 genomes]
rs2192616	1.00[EUR][1000 genomes]
rs2609375	1.00[EUR][1000 genomes]
rs2609376	1.00[EUR][1000 genomes]
rs3768284	1.00[EUR][1000 genomes]
rs5744102	1.00[EUR][1000 genomes]
rs5744153	1.00[EUR][1000 genomes]
rs61743732	1.00[EUR][1000 genomes]
rs6675057	1.00[EUR][1000 genomes]
rs74145600	1.00[EUR][1000 genomes]
rs851160	1.00[EUR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223205800-223214800	Weak transcription	Right Atrium	heart
2	chr1:223208000-223214400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:223208800-223214400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:223209400-223214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:223209400-223215400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:223209600-223213400	Weak transcription	Left Ventricle	heart
7	chr1:223209600-223213600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:223210400-223213600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:223211200-223213800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:223211400-223213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:223211600-223214400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:223211600-223219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:223211800-223213800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:223211800-223214800	Weak transcription	Lung	lung
15	chr1:223211800-223215200	Enhancers	Fetal Muscle Leg	muscle
16	chr1:223212000-223214400	Weak transcription	Aorta	Aorta
17	chr1:223212000-223215800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:223212000-223225600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:223212200-223215000	Enhancers	Right Ventricle	heart
20	chr1:223212400-223214600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:223212600-223213200	Enhancers	HepG2	liver
22	chr1:223212600-223213800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:223212600-223213800	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:223212600-223214600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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