Variant report

Variant	rs2836444
Chromosome Location	chr21:39871435-39871436
allele	C/T
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	chr21:39871053-39871798	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr21:39869110-39872402	HUVEC	blood vessel:	n/a	n/a
3	STAT3	chr21:39871418-39871553	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr21:39869048-39872543	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr21:39871100-39871687	HUVEC	blood vessel:	n/a	n/a
6	FOS	chr21:39871161-39871670	HUVEC	blood vessel:	n/a	chr21:39871466-39871476 chr21:39871465-39871476 chr21:39871540-39871551 chr21:39871468-39871475 chr21:39871467-39871475 chr21:39871467-39871475
7	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
8	JUN	chr21:39871173-39871626	HUVEC	blood vessel:	n/a	chr21:39871466-39871476 chr21:39871540-39871551 chr21:39871468-39871475 chr21:39871467-39871475 chr21:39871467-39871475
9	POLR2A	chr21:39865230-39872556	HUVEC	blood vessel:	n/a	n/a
10	STAT3	chr21:39871393-39871539	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr21:39871120-39872409	HUVEC	blood vessel:	n/a	n/a

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11700443	0.88[CEU][hapmap]
rs11701364	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2836420	0.82[CEU][hapmap]
rs2836439	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2836440	0.86[ASN][1000 genomes]
rs35568883	0.86[ASN][1000 genomes]
rs9982370	0.82[CEU][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.86[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:32 , 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	chr21:39866800-39875200	Weak transcription	HMEC	breast
5	chr21:39867000-39878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:39867200-39877200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:39868400-39875200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:39870000-39875800	Weak transcription	Fetal Lung	lung
9	chr21:39870200-39871600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr21:39870200-39871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:39870200-39871600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr21:39870200-39875400	Weak transcription	Left Ventricle	heart
13	chr21:39870400-39871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:39870400-39875600	Weak transcription	Right Atrium	heart
15	chr21:39870600-39872200	Flanking Active TSS	HUVEC	blood vessel
16	chr21:39870600-39872800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr21:39870800-39874400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:39870800-39875600	Weak transcription	Lung	lung
19	chr21:39871000-39872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:39871000-39872000	Weak transcription	Adipose Nuclei	Adipose
21	chr21:39871200-39871800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:39871200-39871800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:39871200-39872200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr21:39871200-39872200	Enhancers	Aorta	Aorta
25	chr21:39871200-39872200	Enhancers	NH-A	brain
26	chr21:39871200-39872400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr21:39871400-39871800	Enhancers	Primary B cells from cord blood	blood
28	chr21:39871400-39872600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:39871400-39872600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr21:39871400-39872800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr21:39871400-39877200	Weak transcription	Spleen	Spleen
32	chr21:39871400-39878600	Weak transcription	Fetal Thymus	thymus

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