Variant report

Variant	rs2212933
Chromosome Location	chr21:39856991-39856992
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1041795	1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12481801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13051739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285245	0.85[MEX][hapmap]
rs17285252	0.85[MEX][hapmap]
rs2836435	0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3787903	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3787906	0.85[MEX][hapmap]
rs3787909	0.85[MEX][hapmap]
rs7282099	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977083	0.81[CHD][hapmap]
rs9978004	0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
2	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
4	chr21:39850400-39858200	Weak transcription	Right Atrium	heart
5	chr21:39852200-39858000	Weak transcription	Lung	lung
6	chr21:39852200-39858800	Weak transcription	Fetal Thymus	thymus
7	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
8	chr21:39852400-39857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:39852400-39858000	Weak transcription	Aorta	Aorta
10	chr21:39852400-39858000	Weak transcription	Left Ventricle	heart
11	chr21:39855000-39857400	Enhancers	HMEC	breast
12	chr21:39855000-39861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:39855400-39857200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:39855400-39860800	Enhancers	NHEK	skin
15	chr21:39855800-39857400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:39856000-39857000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:39856000-39857000	Enhancers	Fetal Heart	heart
18	chr21:39856000-39858200	Weak transcription	Right Ventricle	heart
19	chr21:39856200-39857000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:39856200-39857200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:39856200-39858000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:39856400-39858200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:39856400-39858200	Weak transcription	NH-A	brain
24	chr21:39856400-39859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:39856400-39862200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr21:39856600-39858800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr21:39856800-39858000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:39856800-39858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:39856800-39858200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:39856800-39858200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:39856800-39858200	Weak transcription	Osteobl	bone
32	chr21:39856800-39858600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr21:39856800-39858600	Enhancers	HUVEC	blood vessel
34	chr21:39856800-39858800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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