Variant report

Variant	rs11947499
Chromosome Location	chr4:95260834-95260835
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:37)

rs_ID	r²[population]
rs10003038	0.82[EUR][1000 genomes]
rs10007463	0.80[EUR][1000 genomes]
rs10014718	0.80[EUR][1000 genomes]
rs10016925	0.80[EUR][1000 genomes]
rs10018599	0.82[EUR][1000 genomes]
rs10022350	0.82[EUR][1000 genomes]
rs10025333	0.80[EUR][1000 genomes]
rs10025839	0.80[EUR][1000 genomes]
rs10027578	0.85[EUR][1000 genomes]
rs10029551	0.82[EUR][1000 genomes]
rs10030605	0.82[EUR][1000 genomes]
rs10032125	0.80[EUR][1000 genomes]
rs10084984	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516948	0.82[EUR][1000 genomes]
rs12186176	0.80[EUR][1000 genomes]
rs17303283	0.80[EUR][1000 genomes]
rs17310498	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17376684	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28469826	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28470897	0.80[EUR][1000 genomes]
rs28508438	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28521014	0.93[EUR][1000 genomes]
rs28568937	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28581732	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28593606	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28650373	0.95[EUR][1000 genomes]
rs28711614	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28713352	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41275681	0.84[EUR][1000 genomes]
rs6817118	0.84[EUR][1000 genomes]
rs6844517	0.82[EUR][1000 genomes]
rs7653910	0.84[EUR][1000 genomes]
rs7685653	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9307138	0.85[EUR][1000 genomes]
rs9884428	0.85[EUR][1000 genomes]
rs9992255	0.80[EUR][1000 genomes]
rs9999656	0.84[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95249400-95261000	Weak transcription	Placenta	Placenta
2	chr4:95259800-95261200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:95259800-95261200	Enhancers	GM12878-XiMat	blood
4	chr4:95259800-95261400	Enhancers	Dnd41	blood
5	chr4:95260000-95261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:95260000-95261200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:95260200-95261000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr4:95260400-95261000	Active TSS	Primary T cells fromperipheralblood	blood
9	chr4:95260400-95261000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr4:95260400-95261000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr4:95260400-95261200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:95260400-95261200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:95260400-95263800	Weak transcription	K562	blood
14	chr4:95260400-95266400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:95260600-95261000	Active TSS	Primary T cells from cord blood	blood
16	chr4:95260600-95261000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr4:95260600-95261000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:95260600-95261200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:95260600-95261200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr4:95260800-95261200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:95260800-95261200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr4:95260800-95261200	Enhancers	Fetal Thymus	thymus

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