Variant report

Variant	rs73760620
Chromosome Location	chr5:58781121-58781122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1813481	1.00[AMR][1000 genomes]
rs1813482	1.00[AMR][1000 genomes]
rs1813483	1.00[AMR][1000 genomes]
rs3903515	1.00[AMR][1000 genomes]
rs55874040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55884041	1.00[AMR][1000 genomes]
rs56075849	1.00[AMR][1000 genomes]
rs56085550	1.00[AMR][1000 genomes]
rs56125266	1.00[AMR][1000 genomes]
rs56143170	1.00[AMR][1000 genomes]
rs56386809	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57438370	1.00[AMR][1000 genomes]
rs58287048	1.00[AMR][1000 genomes]
rs59281772	1.00[AMR][1000 genomes]
rs59524261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59983793	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6877740	1.00[AMR][1000 genomes]
rs73758503	1.00[AMR][1000 genomes]
rs73758504	1.00[AMR][1000 genomes]
rs73758505	1.00[AMR][1000 genomes]
rs73758506	1.00[AMR][1000 genomes]
rs73758507	1.00[AMR][1000 genomes]
rs73758509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758510	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758511	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758512	1.00[AMR][1000 genomes]
rs73758513	1.00[AMR][1000 genomes]
rs73758690	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758692	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73758699	1.00[AMR][1000 genomes]
rs73758700	1.00[AMR][1000 genomes]
rs73758701	1.00[AMR][1000 genomes]
rs73758840	1.00[AMR][1000 genomes]
rs73758841	1.00[AMR][1000 genomes]
rs73758842	1.00[AMR][1000 genomes]
rs73758854	1.00[AMR][1000 genomes]
rs73760303	1.00[AMR][1000 genomes]
rs73760305	1.00[AMR][1000 genomes]
rs73760361	1.00[AMR][1000 genomes]
rs73760362	1.00[AMR][1000 genomes]
rs73760365	1.00[AMR][1000 genomes]
rs73760616	1.00[AMR][1000 genomes]
rs73760618	1.00[AMR][1000 genomes]
rs73760622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761528	1.00[AMR][1000 genomes]
rs73761530	1.00[AMR][1000 genomes]
rs7723589	1.00[AMR][1000 genomes]
rs7735649	1.00[AMR][1000 genomes]
rs7735819	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs931856	1.00[AMR][1000 genomes]
rs931857	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58774000-58783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58774600-58783000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58776600-58783000	Weak transcription	Fetal Intestine Large	intestine
4	chr5:58777400-58783600	Weak transcription	Psoas Muscle	Psoas
5	chr5:58777800-58781600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:58778600-58783800	Weak transcription	Small Intestine	intestine
7	chr5:58778800-58785000	Enhancers	Fetal Brain Male	brain
8	chr5:58779200-58781200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:58779400-58781600	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:58779400-58782200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:58779400-58782200	Enhancers	Brain Germinal Matrix	brain
12	chr5:58779400-58782200	Enhancers	NHEK	skin
13	chr5:58779400-58784400	Enhancers	Fetal Brain Female	brain
14	chr5:58779400-58784400	Enhancers	Fetal Heart	heart
15	chr5:58779600-58781600	Weak transcription	Liver	Liver
16	chr5:58779600-58781800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:58779600-58783600	Weak transcription	Gastric	stomach
18	chr5:58779600-58783600	Weak transcription	Pancreas	Pancrea
19	chr5:58779600-58783600	Enhancers	Hela-S3	cervix
20	chr5:58779800-58781800	Enhancers	Colon Smooth Muscle	Colon
21	chr5:58779800-58783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:58779800-58783000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:58779800-58783200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:58779800-58783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:58779800-58783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:58780000-58781200	Flanking Active TSS	A549	lung
27	chr5:58780000-58783600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:58780200-58781800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:58780200-58782400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:58780400-58781200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:58780400-58781600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:58780600-58781600	Weak transcription	Brain Substantia Nigra	brain
33	chr5:58780600-58781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:58780600-58783200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:58780600-58783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:58780600-58783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:58780600-58783400	Weak transcription	Brain Angular Gyrus	brain
38	chr5:58780600-58783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:58780600-58784600	Enhancers	Fetal Lung	lung
40	chr5:58780800-58781200	Enhancers	Fetal Kidney	kidney
41	chr5:58780800-58781600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:58780800-58782400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:58780800-58783600	Weak transcription	HSMMtube	muscle
44	chr5:58780800-58783600	Weak transcription	NH-A	brain
45	chr5:58780800-58785400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:58781000-58781200	Enhancers	Brain Hippocampus Middle	brain
47	chr5:58781000-58783000	Weak transcription	Brain Cingulate Gyrus	brain

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