Variant report

Variant	rs2836429
Chromosome Location	chr21:39845240-39845241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39839354..39841016-chr21:39844203..39845796,2	K562	blood:
2	chr21:39839516..39841247-chr21:39843114..39845703,2	K562	blood:
3	chr21:39838779..39841665-chr21:39845089..39847967,2	MCF-7	breast:
4	chr21:39844325..39848351-chr21:39848491..39850801,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1041795	0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs17230638	1.00[JPT][hapmap]
rs17230645	1.00[JPT][hapmap]
rs2836421	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836424	0.84[EUR][1000 genomes]
rs2836435	0.82[EUR][1000 genomes]
rs7283796	1.00[JPT][hapmap]
rs9977083	0.81[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][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	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2836429	PCP4	cis	parietal	SCAN
rs2836429	KCNE2	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39840200-39846000	Weak transcription	Aorta	Aorta
3	chr21:39843400-39855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
5	chr21:39844200-39846000	Weak transcription	HMEC	breast
6	chr21:39844200-39847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:39844200-39847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:39844200-39847200	Weak transcription	NHEK	skin
9	chr21:39844400-39845400	Enhancers	Fetal Thymus	thymus
10	chr21:39844400-39847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:39844600-39845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:39844600-39845800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:39844600-39846400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:39844800-39845400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr21:39844800-39845400	Flanking Active TSS	HUVEC	blood vessel
16	chr21:39844800-39845800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:39844800-39847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr21:39845000-39845400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr21:39845000-39845400	Enhancers	Primary T cells from cord blood	blood
20	chr21:39845000-39845400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr21:39845000-39845800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:39845000-39846000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr21:39845000-39846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:39845000-39846000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:39845000-39846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:39845000-39846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:39845000-39846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:39845000-39846200	Weak transcription	Placenta	Placenta
29	chr21:39845000-39846200	Weak transcription	Thymus	Thymus
30	chr21:39845000-39846200	Weak transcription	Spleen	Spleen
31	chr21:39845000-39847000	Genic enhancers	Primary hematopoietic stem cells	blood
32	chr21:39845000-39847400	Weak transcription	Left Ventricle	heart
33	chr21:39845000-39848200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:39845000-39849000	Weak transcription	Right Atrium	heart
35	chr21:39845200-39846000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:39845200-39847000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr21:39845200-39848000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr21:39845200-39848000	Enhancers	Primary neutrophils fromperipheralblood	blood

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