Variant report

Variant	rs4942756
Chromosome Location	chr13:48756439-48756440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11839064	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1359861	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17071466	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1752134	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1854177	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406803	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2765076	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35537731	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3890027	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4500616	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942755	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942758	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs551034	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56762281	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs637390	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs637831	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7318104	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7322824	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73485008	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7981621	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7982500	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984127	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7987321	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7988173	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7994451	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7998964	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8000847	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526458	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526459	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534981	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534986	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534995	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs956169	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9591144	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9591146	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9595871	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[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	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48749800-48760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr13:48755200-48762800	Enhancers	Primary B cells from cord blood	blood
3	chr13:48755600-48760000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr13:48755600-48760000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr13:48755600-48760200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:48755800-48756600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr13:48755800-48759600	Enhancers	Primary T cells from cord blood	blood
8	chr13:48755800-48760200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr13:48755800-48763000	Enhancers	Primary B cells from peripheral blood	blood
10	chr13:48756000-48757400	Enhancers	Dnd41	blood
11	chr13:48756000-48757600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:48756000-48760000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr13:48756200-48756800	Weak transcription	Fetal Thymus	thymus
14	chr13:48756200-48757000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr13:48756200-48757200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:48756200-48757400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr13:48756200-48760400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:48756200-48760400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:48756400-48759200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr13:48756400-48759400	Weak transcription	Primary monocytes fromperipheralblood	blood

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