Variant report

Variant	rs2947344
Chromosome Location	chr10:49984690-49984691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10508908	0.82[JPT][hapmap]
rs10776643	0.86[JPT][hapmap]
rs11101469	0.85[JPT][hapmap]
rs11101470	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs11595065	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs11598212	0.86[JPT][hapmap]
rs1904603	0.94[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2127590	0.90[LWK][hapmap];0.82[TSI][hapmap]
rs2170132	0.80[ASW][hapmap];0.93[LWK][hapmap];0.82[TSI][hapmap];0.95[YRI][hapmap]
rs2663031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663043	0.82[JPT][hapmap]
rs2663053	0.83[EUR][1000 genomes]
rs2683610	0.86[JPT][hapmap]
rs2928393	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2928401	1.00[YRI][hapmap]
rs2940707	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2947345	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2947347	0.92[ASN][1000 genomes]
rs4838648	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs726786	0.90[LWK][hapmap];0.82[TSI][hapmap]
rs7904251	0.86[JPT][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895374	chr10:49969556-49990081	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2947344	WDFY4	cis	cerebellum	SCAN
rs2947344	WDFY4	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49969400-49989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:49977000-49990400	Weak transcription	Fetal Brain Male	brain
5	chr10:49979400-49989200	Strong transcription	Primary hematopoietic stem cells	blood
6	chr10:49979600-49990600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:49979800-49991000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:49979800-49992400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr10:49980000-49990400	Weak transcription	Right Atrium	heart
10	chr10:49981200-49991000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:49981400-50007200	Strong transcription	Primary B cells from cord blood	blood
12	chr10:49981800-49989000	Strong transcription	GM12878-XiMat	blood
13	chr10:49982000-49992200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr10:49982400-49991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:49982400-50000800	Weak transcription	Fetal Thymus	thymus
16	chr10:49982600-49988800	Strong transcription	Spleen	Spleen
17	chr10:49982600-50006800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:49983000-49986000	Weak transcription	Lung	lung
19	chr10:49983600-49985800	Enhancers	Fetal Lung	lung
20	chr10:49984000-49985400	Enhancers	Right Ventricle	heart
21	chr10:49984200-49985200	Enhancers	Fetal Muscle Trunk	muscle
22	chr10:49984400-49985000	Bivalent Enhancer	Fetal Stomach	stomach
23	chr10:49984600-49985400	Enhancers	Fetal Muscle Leg	muscle

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