Variant report

Variant	rs2082483
Chromosome Location	chr19:40047586-40047587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40035928..40038134-chr19:40045282..40047956,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403625	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10403763	1.00[CEU][hapmap];0.85[ASN][1000 genomes]
rs10415807	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10418049	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap]
rs1433109	1.00[CEU][hapmap];0.80[CHB][hapmap];0.83[EUR][1000 genomes]
rs16973498	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2010106	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28596775	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs28612323	1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap]
rs57386718	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57484954	0.83[EUR][1000 genomes]
rs57713278	0.83[EUR][1000 genomes]
rs58916238	0.83[EUR][1000 genomes]
rs61288778	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7248055	0.83[EUR][1000 genomes]
rs72480723	0.83[EUR][1000 genomes]
rs72480724	0.81[EUR][1000 genomes]
rs7251429	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs7255034	0.83[EUR][1000 genomes]
rs7260569	0.80[EUR][1000 genomes]
rs73930747	0.83[EUR][1000 genomes]
rs8100675	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8101913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.87[ASN][1000 genomes]
rs8108805	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2082483	EID2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40031200-40049600	Weak transcription	Right Atrium	heart
2	chr19:40038600-40048000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:40041200-40048200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:40043000-40048200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:40043200-40048000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:40043600-40048200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:40044000-40048200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:40044200-40048400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:40044200-40049600	Weak transcription	Spleen	Spleen
10	chr19:40045600-40047600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr19:40045800-40048000	Weak transcription	Stomach Mucosa	stomach
12	chr19:40046200-40050800	Enhancers	Placenta	Placenta
13	chr19:40047000-40048400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr19:40047200-40047600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr19:40047200-40048200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:40047400-40047800	Weak transcription	GM12878-XiMat	blood
17	chr19:40047400-40048800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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