Variant report

Variant	rs2812228
Chromosome Location	chr13:50773790-50773791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50769446..50774611-chr13:50774663..50778768,6	K562	blood:
2	chr13:50772216..50774413-chr13:50876498..50878979,2	K562	blood:
3	chr13:50767172..50769004-chr13:50771663..50774055,2	K562	blood:
4	chr13:50771906..50774458-chr13:50779802..50781441,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007852	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359613	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1975371	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1985704	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2066625	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2066626	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2066627	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2066632	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2066634	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2580184	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2687938	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740516	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2740518	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740520	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2765756	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2765762	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50761200-50776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr13:50767000-50782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:50767000-50783000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50767200-50777400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:50767600-50782800	Weak transcription	Gastric	stomach
7	chr13:50767800-50782800	Weak transcription	Colonic Mucosa	Colon
8	chr13:50769600-50774400	Strong transcription	HepG2	liver
9	chr13:50770400-50773800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr13:50770800-50783000	Weak transcription	Spleen	Spleen
11	chr13:50772400-50774400	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:50772800-50774600	Weak transcription	Right Atrium	heart
13	chr13:50773000-50774200	Weak transcription	Fetal Heart	heart
14	chr13:50773000-50774200	Weak transcription	K562	blood
15	chr13:50773000-50774800	Weak transcription	Hela-S3	cervix
16	chr13:50773000-50774800	Weak transcription	HUVEC	blood vessel
17	chr13:50773000-50782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:50773000-50782400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:50773200-50774400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:50773200-50774400	Weak transcription	Fetal Lung	lung
21	chr13:50773200-50774600	Weak transcription	NH-A	brain
22	chr13:50773200-50774800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr13:50773200-50782400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:50773400-50774400	Weak transcription	Lung	lung

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