Variant report

Variant	rs61838977
Chromosome Location	chr1:223202426-223202427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17479483	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2066113	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2789913	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35620636	0.93[EUR][1000 genomes]
rs61838471	0.92[EUR][1000 genomes]
rs61838981	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61838985	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74145703	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74148222	0.92[EUR][1000 genomes]
rs755352	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9441855	0.90[AMR][1000 genomes];0.93[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223184800-223204800	Weak transcription	Stomach Mucosa	stomach
2	chr1:223192200-223204200	Weak transcription	Right Ventricle	heart
3	chr1:223197200-223203600	Weak transcription	Hela-S3	cervix
4	chr1:223197200-223204200	Weak transcription	Right Atrium	heart
5	chr1:223197400-223203800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:223197800-223204800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:223200000-223203400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:223200000-223203400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:223200000-223203600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr1:223200000-223204400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:223200400-223203400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:223200400-223203800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:223200400-223203800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:223200400-223204200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:223202000-223203400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:223202000-223204200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:223202000-223204200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:223202000-223204400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:223202200-223202600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:223202200-223203000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:223202200-223203200	Active TSS	Left Ventricle	heart
22	chr1:223202200-223203800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:223202400-223202600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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