Variant report

Variant	rs73144930
Chromosome Location	chr5:96886220-96886221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58017859	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58392134	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60540110	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61003709	0.81[AMR][1000 genomes]
rs73144921	0.81[AMR][1000 genomes]
rs73144928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144931	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73144932	0.95[AFR][1000 genomes]
rs73144933	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73144936	0.81[AMR][1000 genomes]
rs73144937	0.81[AMR][1000 genomes]
rs73144944	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7701962	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1022046	chr5:96757900-97046804	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1031429	chr5:96777286-97269498	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv527650	chr5:96783726-97260358	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1028224	chr5:96791214-97258383	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv537814	chr5:96791214-97258383	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv830416	chr5:96817328-96958233	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv882396	chr5:96849023-97126520	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv882397	chr5:96856849-96991565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv882398	chr5:96856849-97051163	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96881000-96887200	Enhancers	Primary T cells from cord blood	blood
2	chr5:96881000-96890000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:96882000-96889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:96884400-96890400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:96884800-96886400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:96884800-96886400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:96884800-96889600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:96885200-96886400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:96885200-96886400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:96885200-96886400	Enhancers	NHEK	skin
11	chr5:96885200-96886600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:96885200-96886600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:96885200-96887800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:96885400-96886400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:96885400-96886400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:96885400-96886600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:96885400-96886600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:96885400-96886600	Enhancers	Brain Hippocampus Middle	brain
19	chr5:96885400-96886800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:96885600-96886400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:96885600-96886400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:96885600-96886400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:96885600-96886400	Enhancers	Fetal Brain Female	brain
24	chr5:96885600-96886600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:96885600-96886600	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:96885600-96886800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:96885600-96886800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:96885600-96886800	Enhancers	Brain Germinal Matrix	brain
29	chr5:96885800-96886400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:96885800-96886400	Enhancers	HSMM	muscle
31	chr5:96885800-96886400	Enhancers	Osteobl	bone
32	chr5:96885800-96886600	Enhancers	NHDF-Ad	bronchial
33	chr5:96886000-96886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:96886000-96886400	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr5:96886000-96886400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:96886000-96886800	Enhancers	Fetal Intestine Large	intestine
37	chr5:96886000-96889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:96886200-96886400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr5:96886200-96889600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:96886200-96889800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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