Variant report

Variant	rs2410033
Chromosome Location	chr21:39855659-39855660
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	chr21:39848201..39851847-chr21:39852141..39856874,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2836417	0.83[ASN][1000 genomes]
rs2836431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836433	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2836437	0.84[ASN][1000 genomes]
rs62219570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs960818	0.83[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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
2	chr21:39846400-39855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:39850400-39858200	Weak transcription	Right Atrium	heart
6	chr21:39851200-39856000	Weak transcription	NH-A	brain
7	chr21:39852000-39856400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:39852200-39858000	Weak transcription	Lung	lung
9	chr21:39852200-39858800	Weak transcription	Fetal Thymus	thymus
10	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
11	chr21:39852400-39855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:39852400-39857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:39852400-39858000	Weak transcription	Aorta	Aorta
14	chr21:39852400-39858000	Weak transcription	Left Ventricle	heart
15	chr21:39853400-39856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:39854000-39856000	Weak transcription	Fetal Heart	heart
17	chr21:39854000-39856000	Enhancers	HUVEC	blood vessel
18	chr21:39854200-39856200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:39854200-39856400	Weak transcription	Adipose Nuclei	Adipose
20	chr21:39854400-39856600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:39854800-39856200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:39855000-39856800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:39855000-39857400	Enhancers	HMEC	breast
24	chr21:39855000-39861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:39855200-39856800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:39855200-39856800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr21:39855400-39856800	Enhancers	Osteobl	bone
28	chr21:39855400-39857200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:39855400-39860800	Enhancers	NHEK	skin
30	chr21:39855600-39856200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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