Variant report

Variant	rs57800689
Chromosome Location	chr13:49200983-49200984
allele	G/T
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:22)

rs_ID	r²[population]
rs4151632	0.83[AFR][1000 genomes]
rs60240141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479211	1.00[AFR][1000 genomes]
rs73479235	0.83[AFR][1000 genomes]
rs73479241	0.83[AFR][1000 genomes]
rs73479247	0.83[AFR][1000 genomes]
rs73479252	0.83[AFR][1000 genomes]
rs73486810	0.83[AFR][1000 genomes]
rs73486817	0.83[AFR][1000 genomes]
rs73486823	0.83[AFR][1000 genomes]
rs73486824	0.83[AFR][1000 genomes]
rs73491100	1.00[AFR][1000 genomes]
rs73492989	1.00[AFR][1000 genomes]
rs73492996	0.83[AFR][1000 genomes]
rs73493007	1.00[AFR][1000 genomes]
rs73493010	1.00[AFR][1000 genomes]
rs73493016	1.00[AFR][1000 genomes]
rs73493018	1.00[AFR][1000 genomes]
rs73493070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73495021	0.83[AFR][1000 genomes]
rs73495107	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3495983	chr13:49181790-49222165	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495984	chr13:49181790-49222165	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49196600-49201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:49196800-49205600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:49197400-49202000	Enhancers	Ovary	ovary
4	chr13:49197600-49202200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:49197800-49202000	Enhancers	Placenta	Placenta
6	chr13:49198000-49205000	Enhancers	Fetal Intestine Large	intestine
7	chr13:49198400-49201200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:49199000-49201600	Enhancers	Adipose Nuclei	Adipose
9	chr13:49199000-49202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:49199000-49205000	Enhancers	Fetal Intestine Small	intestine
11	chr13:49199200-49201000	Enhancers	Liver	Liver
12	chr13:49199200-49201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:49199400-49201000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:49199400-49201600	Enhancers	Fetal Kidney	kidney
15	chr13:49199400-49201600	Enhancers	NH-A	brain
16	chr13:49199400-49201800	Enhancers	Primary hematopoietic stem cells	blood
17	chr13:49199600-49201200	Enhancers	Fetal Lung	lung
18	chr13:49199600-49201200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr13:49199600-49201400	Weak transcription	Fetal Heart	heart
20	chr13:49199600-49202000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:49199600-49202000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:49199800-49202000	Enhancers	Stomach Mucosa	stomach
23	chr13:49199800-49204200	Weak transcription	Aorta	Aorta
24	chr13:49200000-49201000	Weak transcription	Pancreas	Pancrea
25	chr13:49200000-49201200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:49200000-49201400	Weak transcription	Right Atrium	heart
27	chr13:49200000-49201600	Enhancers	K562	blood
28	chr13:49200200-49201000	Weak transcription	Gastric	stomach
29	chr13:49200200-49201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:49200200-49201200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr13:49200200-49203200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr13:49200200-49203200	Enhancers	HepG2	liver
33	chr13:49200400-49202000	Flanking Active TSS	Dnd41	blood
34	chr13:49200800-49201600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:49200800-49203400	Weak transcription	Duodenum Mucosa	Duodenum

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