Variant report

Variant	rs73111008
Chromosome Location	chr5:59087965-59087966
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	chr5:59085744..59088656-chr5:59089982..59093707,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2053229	1.00[AMR][1000 genomes]
rs73101118	1.00[AMR][1000 genomes]
rs73101129	1.00[AMR][1000 genomes]
rs73109102	1.00[AMR][1000 genomes]
rs7715626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59081800-59090200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr5:59082400-59088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:59082600-59088200	Weak transcription	Esophagus	oesophagus
4	chr5:59082600-59088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:59082600-59089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:59083200-59088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:59083200-59088600	Weak transcription	NHDF-Ad	bronchial
8	chr5:59083800-59089200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:59084800-59088600	Enhancers	Fetal Brain Male	brain
10	chr5:59085200-59088200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:59086000-59090000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:59086000-59094800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:59086400-59090400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:59086400-59090800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:59086600-59090600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:59086600-59094600	Weak transcription	Right Atrium	heart
17	chr5:59086600-59095400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:59086800-59088200	Weak transcription	NH-A	brain
19	chr5:59086800-59088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:59086800-59088400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:59086800-59088400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:59086800-59088400	Weak transcription	Osteobl	bone
23	chr5:59086800-59088600	Weak transcription	Adipose Nuclei	Adipose
24	chr5:59086800-59089200	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:59086800-59089800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:59086800-59089800	Weak transcription	Brain Anterior Caudate	brain
27	chr5:59086800-59095200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:59086800-59095400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:59087000-59088200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:59087000-59089800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:59087000-59089800	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:59087000-59090000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:59087200-59088200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:59087200-59089000	Enhancers	Colon Smooth Muscle	Colon
35	chr5:59087200-59089400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:59087200-59090600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:59087200-59092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:59087400-59088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:59087400-59088600	Enhancers	Hela-S3	cervix
40	chr5:59087400-59094200	Weak transcription	HUVEC	blood vessel
41	chr5:59087400-59095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:59087400-59106000	Weak transcription	Aorta	Aorta
43	chr5:59087600-59090400	Enhancers	HMEC	breast
44	chr5:59087800-59088400	Enhancers	A549	lung
45	chr5:59087800-59090400	Enhancers	NHEK	skin
46	chr5:59087800-59094400	Weak transcription	Fetal Lung	lung

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