Variant report

Variant	rs35511416
Chromosome Location	chr1:57867284-57867285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57866069..57868024-chr1:57868935..57871351,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12081029	1.00[ASN][1000 genomes]
rs12401342	1.00[ASN][1000 genomes]
rs12404869	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12411278	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12725140	0.95[AFR][1000 genomes]
rs12734724	1.00[ASN][1000 genomes]
rs12735312	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12737167	0.95[AFR][1000 genomes]
rs12737593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741031	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12743986	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12748450	1.00[ASN][1000 genomes]
rs12756218	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1557223	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17423736	1.00[ASN][1000 genomes]
rs17423834	1.00[ASN][1000 genomes]
rs17457585	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34088636	1.00[ASN][1000 genomes]
rs34339837	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349049	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34374446	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34458695	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34475805	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34492687	0.84[AFR][1000 genomes]
rs34553708	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34591213	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34600157	1.00[ASN][1000 genomes]
rs34707135	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34725826	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120429	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35321467	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35335448	0.95[AFR][1000 genomes]
rs35344722	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35349270	1.00[ASN][1000 genomes]
rs35404211	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3908772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096668	1.00[AFR][1000 genomes]
rs56156700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58075307	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71511461	0.84[AFR][1000 genomes]
rs71642111	1.00[ASN][1000 genomes]
rs71642113	1.00[ASN][1000 genomes]
rs71642115	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71642116	1.00[ASN][1000 genomes]
rs71642117	1.00[ASN][1000 genomes]
rs71642118	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74074913	0.90[AFR][1000 genomes]
rs74074918	0.90[AFR][1000 genomes]
rs74074976	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74074978	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57858000-57868600	Weak transcription	Fetal Brain Male	brain
2	chr1:57860400-57874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57862400-57870800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57862400-57873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57863800-57875400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:57864000-57867400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:57864400-57873400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:57865400-57867600	Enhancers	HepG2	liver
9	chr1:57866600-57870600	Weak transcription	Stomach Mucosa	stomach
10	chr1:57867200-57867400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:57867200-57867600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:57867200-57867600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:57867200-57867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:57867200-57867800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:57867200-57867800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:57867200-57867800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:57867200-57867800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:57867200-57867800	Enhancers	Hela-S3	cervix
19	chr1:57867200-57868000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:57867200-57868000	Enhancers	HUES64 Cell Line	embryonic stem cell

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