Variant report

Variant	rs11909285
Chromosome Location	chr21:39855162-39855163
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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11908941	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs11909765	0.82[AFR][1000 genomes]
rs17193990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836457	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2836460	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2836461	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2836462	1.00[EUR][1000 genomes]
rs2836465	1.00[EUR][1000 genomes]
rs2836467	1.00[EUR][1000 genomes]
rs3787908	0.92[CHB][hapmap]
rs6517468	0.85[CHB][hapmap];0.88[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

No data

Chromatin state (count:28 , 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	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:39850400-39858200	Weak transcription	Right Atrium	heart
8	chr21:39851200-39856000	Weak transcription	NH-A	brain
9	chr21:39852000-39856400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:39852200-39858000	Weak transcription	Lung	lung
11	chr21:39852200-39858800	Weak transcription	Fetal Thymus	thymus
12	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
13	chr21:39852400-39855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:39852400-39857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:39852400-39858000	Weak transcription	Aorta	Aorta
16	chr21:39852400-39858000	Weak transcription	Left Ventricle	heart
17	chr21:39852600-39855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:39853200-39855400	Weak transcription	NHEK	skin
19	chr21:39853400-39856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:39854000-39856000	Weak transcription	Fetal Heart	heart
21	chr21:39854000-39856000	Enhancers	HUVEC	blood vessel
22	chr21:39854200-39856200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:39854200-39856400	Weak transcription	Adipose Nuclei	Adipose
24	chr21:39854400-39856600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:39854800-39856200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr21:39855000-39856800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:39855000-39857400	Enhancers	HMEC	breast
28	chr21:39855000-39861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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