Variant report

Variant	rs7994451
Chromosome Location	chr13:48767169-48767170
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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11839064	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1359861	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17071466	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1752134	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1854177	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406803	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2765076	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35537731	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3890027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4500616	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942755	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942756	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942758	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs551034	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56762281	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs637390	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs637831	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7318104	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7322824	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485008	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7981621	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7982500	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984127	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7987321	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7988173	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7988389	0.84[ASN][1000 genomes]
rs7998964	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8000847	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526458	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526459	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534981	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534986	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534995	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs956169	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9591144	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9591146	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9595871	0.84[EUR][1000 genomes];0.96[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48762600-48767400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:48762600-48767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:48763400-48768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr13:48763600-48767800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr13:48764800-48774600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:48765600-48768000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr13:48766000-48768000	Weak transcription	HepG2	liver
8	chr13:48766200-48768200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr13:48766400-48768800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr13:48766400-48769000	Enhancers	Primary T cells from cord blood	blood
11	chr13:48766400-48769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:48766400-48769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr13:48766400-48769000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:48766600-48767200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:48766600-48769000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr13:48766800-48767600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr13:48766800-48768000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:48766800-48768000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:48767000-48767400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr13:48767000-48767400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr13:48767000-48769600	Enhancers	Primary B cells from cord blood	blood

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