Variant report

Variant	rs2836442
Chromosome Location	chr21:39871042-39871043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:39869110-39872402	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr21:39869048-39872543	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr21:39869953-39872270	HUVEC	blood vessel:	n/a	chr21:39870500-39870516 chr21:39870505-39870512 chr21:39870502-39870516 chr21:39870494-39870511 chr21:39870505-39870512 chr21:39870503-39870513 chr21:39870505-39870512 chr21:39870498-39870519
4	POLR2A	chr21:39865230-39872556	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
SNRPGP13	TF binding region
ERG	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2836443	0.96[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2836445	0.81[GIH][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39860400-39879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:39862000-39872200	Weak transcription	Gastric	stomach
3	chr21:39862000-39877400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:39862200-39871200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:39866800-39875200	Weak transcription	HMEC	breast
6	chr21:39867000-39878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:39867200-39871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:39867200-39877200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:39868400-39875200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr21:39869200-39871400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr21:39869400-39871400	Active TSS	Spleen	Spleen
12	chr21:39870000-39875800	Weak transcription	Fetal Lung	lung
13	chr21:39870200-39871600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr21:39870200-39871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:39870200-39871600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr21:39870200-39875400	Weak transcription	Left Ventricle	heart
17	chr21:39870400-39871200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:39870400-39871200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr21:39870400-39871400	Enhancers	Fetal Thymus	thymus
20	chr21:39870400-39871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:39870400-39875600	Weak transcription	Right Atrium	heart
22	chr21:39870600-39871400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr21:39870600-39872200	Flanking Active TSS	HUVEC	blood vessel
24	chr21:39870600-39872800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr21:39870800-39871200	Weak transcription	Aorta	Aorta
26	chr21:39870800-39871400	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr21:39870800-39874400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:39870800-39875600	Weak transcription	Lung	lung
29	chr21:39871000-39872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:39871000-39872000	Weak transcription	Adipose Nuclei	Adipose

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