Variant report

Variant	rs9993163
Chromosome Location	chr4:122104716-122104717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10004221	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10007399	0.89[AMR][1000 genomes]
rs10015340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10446733	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10454795	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11947841	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13101385	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13102428	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13104663	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13104875	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13106084	0.84[ASN][1000 genomes]
rs13106137	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13107912	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13108214	0.85[EUR][1000 genomes]
rs13109100	0.84[ASN][1000 genomes]
rs13112923	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13115256	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116723	0.84[ASN][1000 genomes]
rs13116936	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118027	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13123960	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13124511	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13124522	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13125962	0.95[ASN][1000 genomes]
rs13126929	0.81[EUR][1000 genomes]
rs13128962	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129000	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129293	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13129450	0.83[AMR][1000 genomes]
rs13133184	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13133221	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13133584	0.83[EUR][1000 genomes]
rs13133740	0.82[AMR][1000 genomes]
rs13137539	0.81[EUR][1000 genomes]
rs13143534	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150702	0.81[EUR][1000 genomes]
rs13151913	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152159	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152687	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17051320	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17051321	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1858291	0.81[AMR][1000 genomes]
rs2136942	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198315	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218959	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28513714	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28530598	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35449703	0.81[ASN][1000 genomes]
rs35971082	0.81[EUR][1000 genomes]
rs36087391	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3817171	0.81[EUR][1000 genomes]
rs6534254	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6811411	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6812399	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812515	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814480	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820363	0.83[EUR][1000 genomes]
rs6821331	0.83[EUR][1000 genomes]
rs6835790	0.81[EUR][1000 genomes]
rs6838000	0.84[ASN][1000 genomes]
rs6839386	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6855628	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7680038	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684168	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896621	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9284633	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307490	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998327	0.83[EUR][1000 genomes]
rs9992960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr4:122103600-122105000	Enhancers	Fetal Thymus	thymus
2	chr4:122103800-122104800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr4:122103800-122104800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:122103800-122106800	Weak transcription	GM12878-XiMat	blood
5	chr4:122104000-122104800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:122104000-122104800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:122104000-122104800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:122104000-122104800	Enhancers	Thymus	Thymus
9	chr4:122104000-122105800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:122104000-122106200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:122104000-122108400	Weak transcription	Hela-S3	cervix
12	chr4:122104200-122104800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:122104200-122104800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr4:122104200-122105600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:122104200-122105800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr4:122104400-122105000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:122104400-122105000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:122104400-122105200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:122104600-122105000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:122104600-122105000	Enhancers	Dnd41	blood
21	chr4:122104600-122105600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:122104600-122107800	Enhancers	Primary T cells from cord blood	blood

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