Variant report

Variant	rs73793105
Chromosome Location	chr4:1172972-1172973
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	chr4:1172668..1175501-chr4:1185968..1187625,2	MCF-7	breast:
2	chr4:1164336..1166636-chr4:1170930..1173954,3	K562	blood:

Variant related genes	Relation type
ENSG00000159674	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55644007	1.00[AMR][1000 genomes]
rs55676333	1.00[AMR][1000 genomes]
rs55752278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55759903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56047112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56173468	1.00[AMR][1000 genomes]
rs56265368	1.00[AMR][1000 genomes]
rs56896955	0.97[AFR][1000 genomes]
rs57265466	1.00[AMR][1000 genomes]
rs57280685	1.00[AMR][1000 genomes]
rs59830952	1.00[AMR][1000 genomes]
rs61167830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061799	1.00[AMR][1000 genomes]
rs73063716	1.00[AMR][1000 genomes]
rs73063723	1.00[AMR][1000 genomes]
rs73072277	1.00[AMR][1000 genomes]
rs73074159	1.00[AMR][1000 genomes]
rs73792265	1.00[AMR][1000 genomes]
rs73792270	1.00[AMR][1000 genomes]
rs73792282	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793931	1.00[AMR][1000 genomes]
rs73793932	1.00[AMR][1000 genomes]
rs73794431	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7685842	1.00[AMR][1000 genomes]
rs7686048	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
10	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
12	nsv519106	chr4:1158991-1174861	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
18	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1167000-1174200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:1167200-1174200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:1167400-1173400	Enhancers	Fetal Muscle Leg	muscle
4	chr4:1167800-1173800	Enhancers	Liver	Liver
5	chr4:1169800-1173200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr4:1169800-1173200	Enhancers	Fetal Muscle Trunk	muscle
7	chr4:1170400-1173400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr4:1170600-1173000	Enhancers	Left Ventricle	heart
9	chr4:1170600-1173200	Enhancers	Psoas Muscle	Psoas
10	chr4:1170600-1173400	Enhancers	Stomach Mucosa	stomach
11	chr4:1170800-1173000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:1170800-1173000	Enhancers	HSMM	muscle
13	chr4:1170800-1173000	Enhancers	HSMMtube	muscle
14	chr4:1170800-1173200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:1170800-1173400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr4:1171000-1173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:1171600-1173200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:1171600-1173200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:1171600-1185400	Weak transcription	Small Intestine	intestine
20	chr4:1172000-1173000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:1172000-1173200	Strong transcription	NHLF	lung
22	chr4:1172000-1177600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:1172200-1173000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:1172400-1173000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:1172400-1173000	Enhancers	Gastric	stomach
26	chr4:1172400-1173000	Enhancers	HepG2	liver
27	chr4:1172400-1173000	Enhancers	NH-A	brain
28	chr4:1172600-1173000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:1172600-1173000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:1172600-1173200	Enhancers	Lung	lung
31	chr4:1172600-1173200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr4:1172600-1173800	Enhancers	K562	blood
33	chr4:1172800-1173200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:1172800-1173200	Enhancers	Duodenum Mucosa	Duodenum
35	chr4:1172800-1173200	Enhancers	Fetal Intestine Small	intestine
36	chr4:1172800-1173200	Enhancers	Right Atrium	heart
37	chr4:1172800-1173200	Enhancers	Right Ventricle	heart
38	chr4:1172800-1173800	Weak transcription	Esophagus	oesophagus
39	chr4:1172800-1175000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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