Variant report

Variant	rs4838646
Chromosome Location	chr10:49945594-49945595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49940297..49942343-chr10:49945304..49947182,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10508907	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10776642	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857626	0.88[ASN][1000 genomes]
rs10857632	0.92[ASN][1000 genomes]
rs10857633	0.92[ASN][1000 genomes]
rs11101442	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12242299	1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs17836423	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs1871599	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1993986	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2377627	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2377628	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41282001	0.86[ASN][1000 genomes]
rs4838645	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7076662	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7099117	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4838646		cis	Lymphoblastoid	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49923400-49960200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49925200-49951600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49926400-49953600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:49927800-49949600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:49927800-49953400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:49928000-49951600	Strong transcription	GM12878-XiMat	blood
7	chr10:49928400-49953800	Strong transcription	Primary hematopoietic stem cells	blood
8	chr10:49931000-49952800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:49931000-49956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:49934200-49951400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr10:49934400-49955800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr10:49934600-49955800	Strong transcription	Primary B cells from cord blood	blood
13	chr10:49935400-49951400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr10:49939600-49956200	Weak transcription	Adipose Nuclei	Adipose
15	chr10:49939800-49951200	Weak transcription	Lung	lung
16	chr10:49940800-49951200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:49942400-49947000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr10:49944200-49948400	Weak transcription	Esophagus	oesophagus
19	chr10:49944600-49949800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:49945000-49946400	Weak transcription	Spleen	Spleen

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