Variant report

Variant	rs7442754
Chromosome Location	chr5:42721080-42721081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42720219..42722168-chr5:42727317..42730144,2	K562	blood:

Variant related genes	Relation type
ENSG00000270513	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10038285	0.86[EUR][1000 genomes]
rs10038477	0.84[EUR][1000 genomes]
rs10041108	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10041130	0.95[EUR][1000 genomes]
rs10044169	0.84[EUR][1000 genomes]
rs10050889	0.80[EUR][1000 genomes]
rs10061833	0.84[EUR][1000 genomes]
rs10074740	0.83[EUR][1000 genomes]
rs10077296	0.84[EUR][1000 genomes]
rs10473288	0.86[EUR][1000 genomes]
rs10805665	0.86[EUR][1000 genomes]
rs10941583	0.93[EUR][1000 genomes]
rs10941588	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1109882	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12514437	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1423655	0.95[EUR][1000 genomes]
rs2081164	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs230808	0.94[EUR][1000 genomes]
rs230811	0.94[EUR][1000 genomes]
rs28919913	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2910854	0.95[EUR][1000 genomes]
rs2910860	0.95[EUR][1000 genomes]
rs2910863	0.95[EUR][1000 genomes]
rs2910866	0.95[EUR][1000 genomes]
rs2910878	0.84[EUR][1000 genomes]
rs2972780	0.84[EUR][1000 genomes]
rs2973008	0.95[EUR][1000 genomes]
rs34159518	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3877899	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4242119	0.85[EUR][1000 genomes]
rs4242122	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4242123	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4242124	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4273617	0.83[EUR][1000 genomes]
rs4376276	0.93[EUR][1000 genomes]
rs4569879	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4637559	0.94[EUR][1000 genomes]
rs4866793	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4866947	0.84[EUR][1000 genomes]
rs4866948	0.84[EUR][1000 genomes]
rs4866955	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4866956	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4866957	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6179	0.83[EUR][1000 genomes]
rs6413428	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6414898	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6451641	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451643	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6871947	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6873340	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7444761	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42688400-42722200	Weak transcription	Pancreas	Pancrea
2	chr5:42708800-42722800	Strong transcription	Liver	Liver
3	chr5:42714200-42721200	Weak transcription	Psoas Muscle	Psoas
4	chr5:42716600-42722000	Weak transcription	HSMMtube	muscle
5	chr5:42718400-42722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:42718400-42722400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:42718600-42721200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:42718600-42721800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:42719200-42721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:42719200-42721600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:42719400-42721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:42719400-42723400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:42719600-42721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:42719600-42721200	Weak transcription	Ovary	ovary
15	chr5:42719600-42721200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:42719600-42721400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:42719600-42721600	Weak transcription	HSMM	muscle
18	chr5:42719600-42722000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:42719600-42722200	Weak transcription	Esophagus	oesophagus
20	chr5:42719600-42722200	Weak transcription	Spleen	Spleen
21	chr5:42719600-42722800	Weak transcription	Fetal Stomach	stomach
22	chr5:42719600-42723800	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:42719600-42723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:42719600-42724000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:42719800-42721400	Weak transcription	Osteobl	bone
26	chr5:42719800-42723800	Weak transcription	Fetal Lung	lung
27	chr5:42719800-42724200	Weak transcription	Left Ventricle	heart
28	chr5:42720200-42721600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:42720400-42721200	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:42720400-42721200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:42720600-42721200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:42720600-42721200	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:42720600-42721600	Weak transcription	GM12878-XiMat	blood
34	chr5:42720600-42722200	Weak transcription	Aorta	Aorta
35	chr5:42720800-42721600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:42721000-42721400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:42721000-42721400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr5:42721000-42721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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