Variant report

Variant	rs7275212
Chromosome Location	chr21:39852551-39852552
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39848201..39851847-chr21:39852141..39856874,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1015022	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs12053740	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2836443	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2836445	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs3787901	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs58030288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636638	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9636935	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9636936	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]

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	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
White blood cell types	21738478	GWAS catalog

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39843400-39855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
3	chr21:39846400-39855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:39846400-39855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:39849200-39852800	Enhancers	HMEC	breast
7	chr21:39849600-39852800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:39850000-39852600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:39850400-39858200	Weak transcription	Right Atrium	heart
11	chr21:39850600-39854800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr21:39851000-39853600	Weak transcription	Fetal Heart	heart
13	chr21:39851000-39853800	Weak transcription	Adipose Nuclei	Adipose
14	chr21:39851200-39856000	Weak transcription	NH-A	brain
15	chr21:39852000-39852800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:39852000-39853200	Enhancers	NHEK	skin
17	chr21:39852000-39856400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:39852200-39853600	Enhancers	HUVEC	blood vessel
19	chr21:39852200-39858000	Weak transcription	Lung	lung
20	chr21:39852200-39858800	Weak transcription	Fetal Thymus	thymus
21	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
22	chr21:39852400-39855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:39852400-39857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:39852400-39858000	Weak transcription	Aorta	Aorta
25	chr21:39852400-39858000	Weak transcription	Left Ventricle	heart

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