Variant report

Variant	rs34285879
Chromosome Location	chr1:223678257-223678258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223649109..223651921-chr1:223677870..223679943,2	K562	blood:
2	chr1:223672287..223674921-chr1:223677312..223680286,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12136518	0.88[ASN][1000 genomes]
rs12403119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408545	0.94[ASN][1000 genomes]
rs12409225	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12411081	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12732440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752130	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12760595	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34766468	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35219153	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36046682	0.86[ASN][1000 genomes]
rs3935463	0.88[ASN][1000 genomes]
rs4353087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402119	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4606305	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55939627	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56170942	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56296308	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs59248273	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61366469	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6604718	0.90[ASN][1000 genomes]
rs6604721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667089	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676169	0.87[ASN][1000 genomes]
rs6676669	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6684384	0.84[ASN][1000 genomes]
rs72745975	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72745981	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517145	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7549968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223674400-223678400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:223674600-223678400	Weak transcription	Esophagus	oesophagus
3	chr1:223675800-223678400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:223676400-223679000	Enhancers	Stomach Mucosa	stomach
5	chr1:223676800-223678800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:223676800-223678800	Enhancers	NHEK	skin
7	chr1:223677000-223679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:223677400-223678400	Enhancers	Fetal Kidney	kidney
9	chr1:223677400-223678600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:223677400-223679000	Enhancers	HMEC	breast
11	chr1:223677400-223679800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:223677600-223678400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:223677600-223678600	Enhancers	NH-A	brain
14	chr1:223677600-223678800	Enhancers	Osteobl	bone
15	chr1:223677800-223678400	Enhancers	NHDF-Ad	bronchial
16	chr1:223677800-223678600	Enhancers	HUVEC	blood vessel
17	chr1:223677800-223679000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:223678000-223678400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:223678000-223678600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:223678200-223678400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:223678200-223678600	Enhancers	Sigmoid Colon	Sigmoid Colon

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