Variant report

Variant	rs17383130
Chromosome Location	chr4:10589275-10589276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11934521	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11938495	0.97[ASN][1000 genomes]
rs17382947	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17382963	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17383005	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17383033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17383040	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17383095	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17467476	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17467581	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17467602	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17467609	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1966375	0.95[ASN][1000 genomes]
rs1989245	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1990272	0.87[ASN][1000 genomes]
rs2014303	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2302170	0.95[ASN][1000 genomes]
rs2869470	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35265323	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41340151	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55804861	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55878273	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56325310	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58442828	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58728006	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59203169	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61495782	0.97[ASN][1000 genomes]
rs61795106	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61795107	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6448068	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6816045	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6818298	0.87[ASN][1000 genomes]
rs6819450	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6837268	0.93[EUR][1000 genomes]
rs6846414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855648	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6856210	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228207	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73228210	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73228212	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228224	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73228227	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73228228	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73228236	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7439618	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs763677	0.85[ASN][1000 genomes]
rs7657440	0.85[ASN][1000 genomes]
rs7659607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7674488	0.97[ASN][1000 genomes]
rs7683820	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7685040	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7685227	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7694378	0.85[ASN][1000 genomes]
rs7696635	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
5	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
7	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
8	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
9	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
12	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
13	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv878697	chr4:10501373-10831866	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv878698	chr4:10536544-10632404	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10583600-10590800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:10585800-10591600	Weak transcription	HSMM	muscle
3	chr4:10586000-10589400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:10586000-10591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:10586000-10591400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:10586000-10591400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:10586200-10589400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:10586200-10589400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:10586200-10591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:10586200-10591000	Weak transcription	Spleen	Spleen
11	chr4:10586400-10590800	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:10586400-10591000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:10586400-10591000	Weak transcription	NH-A	brain
14	chr4:10586400-10591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:10586400-10591400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:10586600-10589400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:10586600-10589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:10586600-10591000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:10586600-10591400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:10586600-10591400	Weak transcription	NHLF	lung
21	chr4:10588400-10591000	Enhancers	Fetal Thymus	thymus
22	chr4:10588400-10592800	Enhancers	Dnd41	blood
23	chr4:10588600-10592400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:10588600-10592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:10588800-10590200	Enhancers	Thymus	Thymus
26	chr4:10588800-10592000	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:10588800-10592200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:10588800-10592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:10588800-10592800	Enhancers	Primary T cells from cord blood	blood
30	chr4:10588800-10592800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr4:10589000-10590200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr4:10589000-10592200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:10589200-10590000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:10589200-10590400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:10589200-10592400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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