Variant report

Variant	rs2182220
Chromosome Location	chr13:48768136-48768137
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	chr13:48759722..48761535-chr13:48765446..48768314,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1749976	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1925747	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406802	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406804	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765074	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2765075	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942753	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942754	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607954	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7329629	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988534	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7989671	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993868	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7994141	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7995410	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534969	0.86[ASN][1000 genomes]
rs9534978	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534979	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534983	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534988	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1031	chr13:48766510-48790172	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48764800-48774600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:48766200-48768200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:48766400-48768800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr13:48766400-48769000	Enhancers	Primary T cells from cord blood	blood
5	chr13:48766400-48769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr13:48766400-48769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr13:48766400-48769000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr13:48766600-48769000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr13:48767000-48769600	Enhancers	Primary B cells from cord blood	blood
10	chr13:48767400-48769000	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:48767400-48769000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr13:48767400-48769200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:48767400-48769400	Enhancers	Primary B cells from peripheral blood	blood
14	chr13:48767600-48768600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:48767800-48768800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr13:48768000-48768200	Flanking Active TSS	GM12878-XiMat	blood
17	chr13:48768000-48768400	Enhancers	HepG2	liver
18	chr13:48768000-48768600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr13:48768000-48768600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:48768000-48768800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:48768000-48768800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:48768000-48769000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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