Variant report

Variant	rs11744642
Chromosome Location	chr5:96064271-96064272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10447215	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10515244	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11739280	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11745122	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750399	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11750400	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11750510	0.86[AMR][1000 genomes]
rs1559085	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17400685	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17400741	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17479052	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34942552	0.89[AMR][1000 genomes]
rs55695458	0.89[AMR][1000 genomes]
rs56122780	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72772090	0.89[AMR][1000 genomes]
rs72772091	0.86[AMR][1000 genomes]
rs72772092	0.86[AMR][1000 genomes]
rs72772095	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96042800-96076200	Weak transcription	GM12878-XiMat	blood
2	chr5:96051000-96065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:96051000-96067000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:96051200-96076800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:96051600-96065200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:96051600-96065400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:96052400-96065400	Weak transcription	HepG2	liver
9	chr5:96052400-96065600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:96053000-96069600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:96053400-96065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:96053400-96065600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:96053400-96066200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:96054800-96065400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:96054800-96065600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:96054800-96069600	Weak transcription	Stomach Mucosa	stomach
17	chr5:96054800-96069600	Weak transcription	K562	blood
18	chr5:96054800-96077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:96055600-96066200	Weak transcription	Spleen	Spleen
20	chr5:96055800-96065600	Weak transcription	Lung	lung
21	chr5:96057000-96067400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:96057400-96065400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:96057400-96065400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:96057400-96065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:96057600-96065600	Weak transcription	Ovary	ovary
26	chr5:96057600-96065600	Weak transcription	A549	lung
27	chr5:96057600-96067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:96057800-96065200	Weak transcription	Gastric	stomach
29	chr5:96057800-96066200	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:96057800-96066200	Weak transcription	Fetal Kidney	kidney
31	chr5:96057800-96066200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:96057800-96066200	Weak transcription	NHDF-Ad	bronchial
33	chr5:96057800-96075200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:96057800-96076000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
36	chr5:96058000-96065400	Weak transcription	HSMMtube	muscle
37	chr5:96058000-96077200	Weak transcription	Small Intestine	intestine
38	chr5:96058000-96078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:96058200-96067000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:96058200-96067600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:96058400-96065200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:96058400-96067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:96058400-96069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:96060000-96067000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:96060000-96067200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:96060200-96065400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:96060600-96066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:96060600-96067000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:96060600-96067400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:96060600-96067400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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