Variant report

Variant	rs12258000
Chromosome Location	chr10:50449828-50449829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50448759..50451494-chr10:50463430..50466103,2	K562	blood:
2	chr10:50446994..50449831-chr10:50450885..50453374,2	K562	blood:
3	chr10:50443853..50446189-chr10:50448741..50451708,2	K562	blood:
4	chr10:50445084..50446757-chr10:50448279..50449919,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10159700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10159817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10159822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101007	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101010	0.88[YRI][hapmap];0.87[AMR][1000 genomes]
rs11101018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101047	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101050	1.00[AMR][1000 genomes]
rs11101052	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101055	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101056	1.00[AMR][1000 genomes]
rs11101059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12244349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249572	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251532	1.00[AMR][1000 genomes]
rs12251535	1.00[AMR][1000 genomes]
rs12251541	1.00[AMR][1000 genomes]
rs12253136	1.00[AMR][1000 genomes]
rs12253212	1.00[AMR][1000 genomes]
rs12253681	1.00[AMR][1000 genomes]
rs12253756	1.00[AMR][1000 genomes]
rs12258809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12260357	1.00[AMR][1000 genomes]
rs12262517	0.87[AMR][1000 genomes]
rs17009534	0.87[AMR][1000 genomes]
rs61739968	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7358036	1.00[AFR][1000 genomes]
rs7358236	0.94[AFR][1000 genomes];1.00[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr10:50445600-50450200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr10:50447600-50452400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr10:50447600-50453000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:50447800-50450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:50448800-50450400	Enhancers	Fetal Stomach	stomach
6	chr10:50449000-50451000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:50449000-50451000	Enhancers	Fetal Muscle Trunk	muscle
8	chr10:50449000-50451200	Enhancers	Fetal Muscle Leg	muscle
9	chr10:50449000-50451400	Enhancers	Left Ventricle	heart
10	chr10:50449000-50451400	Enhancers	Right Atrium	heart
11	chr10:50449000-50451600	Enhancers	Fetal Heart	heart
12	chr10:50449000-50451600	Enhancers	Right Ventricle	heart
13	chr10:50449200-50450000	Enhancers	Placenta	Placenta
14	chr10:50449400-50450600	Weak transcription	Liver	Liver
15	chr10:50449400-50451200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:50449600-50450800	Weak transcription	Primary B cells from cord blood	blood
17	chr10:50449600-50451000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr10:50449600-50451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50449800-50451600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:50449800-50451600	Enhancers	K562	blood
21	chr10:50449800-50452200	Enhancers	Spleen	Spleen

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