Variant report

Variant	rs58004853
Chromosome Location	chr13:96597707-96597708
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17885605	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55849606	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55858348	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59666343	1.00[EUR][1000 genomes]
rs60689318	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106032	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106061	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106068	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74106311	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96577200-96598000	Weak transcription	HMEC	breast
3	chr13:96577800-96608800	Weak transcription	NHEK	skin
4	chr13:96584000-96599200	Weak transcription	Colonic Mucosa	Colon
5	chr13:96584200-96611000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:96586000-96601200	Weak transcription	NHDF-Ad	bronchial
7	chr13:96586600-96601400	Weak transcription	HUVEC	blood vessel
8	chr13:96588600-96603400	Weak transcription	NH-A	brain
9	chr13:96588800-96605400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:96588800-96606400	Weak transcription	Fetal Heart	heart
11	chr13:96588800-96611200	Weak transcription	Gastric	stomach
12	chr13:96589000-96598600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:96589000-96598600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:96589000-96599200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:96589000-96600200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:96589000-96600200	Weak transcription	Esophagus	oesophagus
17	chr13:96589000-96600400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr13:96589000-96601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:96589000-96601000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr13:96589000-96601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:96589000-96602200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:96589000-96602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:96589000-96602200	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:96589000-96602600	Weak transcription	Brain Anterior Caudate	brain
25	chr13:96589000-96603000	Weak transcription	Fetal Kidney	kidney
26	chr13:96589000-96603600	Weak transcription	Right Ventricle	heart
27	chr13:96589000-96604400	Weak transcription	Placenta	Placenta
28	chr13:96589000-96605800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:96589000-96609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:96589000-96609600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:96589000-96611000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:96589000-96611000	Weak transcription	Pancreas	Pancrea
33	chr13:96589000-96611800	Weak transcription	A549	lung
34	chr13:96589000-96611800	Weak transcription	HepG2	liver
35	chr13:96589000-96612000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:96589000-96615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:96589200-96601000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:96589200-96602200	Weak transcription	Fetal Intestine Small	intestine
39	chr13:96589200-96609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:96589200-96609600	Weak transcription	Fetal Stomach	stomach
41	chr13:96589400-96608600	Weak transcription	Brain Germinal Matrix	brain
42	chr13:96590800-96600600	Weak transcription	Fetal Brain Female	brain
43	chr13:96591200-96598000	Weak transcription	Osteobl	bone
44	chr13:96591400-96605800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:96591400-96609200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:96591600-96598600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:96591600-96602200	Weak transcription	Lung	lung
48	chr13:96591600-96603600	Weak transcription	Fetal Lung	lung
49	chr13:96591600-96603600	Weak transcription	Fetal Muscle Leg	muscle
50	chr13:96591600-96605000	Weak transcription	H1 Cell Line	embryonic stem cell

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