Variant report

Variant	rs685938
Chromosome Location	chr13:76342667-76342668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2273995	1.00[EUR][1000 genomes]
rs3783027	1.00[EUR][1000 genomes]
rs56915688	1.00[EUR][1000 genomes]
rs57908776	1.00[EUR][1000 genomes]
rs58875660	1.00[EUR][1000 genomes]
rs59762752	1.00[EUR][1000 genomes]
rs73542522	1.00[EUR][1000 genomes]
rs73542559	1.00[EUR][1000 genomes]
rs74096469	1.00[EUR][1000 genomes]
rs7995235	1.00[EUR][1000 genomes]
rs7998891	1.00[EUR][1000 genomes]
rs7999724	1.00[EUR][1000 genomes]
rs8001459	1.00[EUR][1000 genomes]
rs9318372	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9318374	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9318375	0.83[AMR][1000 genomes]
rs9593125	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9593126	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9593127	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9593128	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600549	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600551	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600552	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600553	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76334800-76343600	Genic enhancers	Osteobl	bone
4	chr13:76337000-76344400	Weak transcription	Ovary	ovary
5	chr13:76337400-76344200	Weak transcription	Placenta	Placenta
6	chr13:76337400-76347600	Weak transcription	Gastric	stomach
7	chr13:76337600-76343400	Weak transcription	Fetal Kidney	kidney
8	chr13:76337600-76344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:76338000-76344600	Weak transcription	HMEC	breast
10	chr13:76338000-76344600	Weak transcription	NHEK	skin
11	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
12	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
13	chr13:76338600-76343800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:76338600-76345000	Weak transcription	Colonic Mucosa	Colon
15	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
16	chr13:76338800-76343400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:76338800-76343800	Enhancers	A549	lung
18	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
19	chr13:76339000-76348200	Enhancers	Fetal Intestine Small	intestine
20	chr13:76339400-76343200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:76339400-76343400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr13:76339800-76344600	Weak transcription	Fetal Heart	heart
23	chr13:76340000-76343400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:76340000-76343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
26	chr13:76340200-76343200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:76340200-76343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:76340200-76343400	Weak transcription	Psoas Muscle	Psoas
29	chr13:76340200-76343400	Weak transcription	HSMMtube	muscle
30	chr13:76340200-76343600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:76340200-76343800	Strong transcription	HSMM	muscle
32	chr13:76340200-76344200	Weak transcription	Fetal Lung	lung
33	chr13:76340200-76347200	Weak transcription	Pancreas	Pancrea
34	chr13:76340200-76349200	Enhancers	NHDF-Ad	bronchial
35	chr13:76340600-76344400	Weak transcription	NH-A	brain
36	chr13:76340800-76344200	Weak transcription	Small Intestine	intestine
37	chr13:76340800-76347200	Enhancers	HepG2	liver
38	chr13:76341000-76343800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:76341200-76343400	Weak transcription	Liver	Liver
40	chr13:76341200-76346000	Weak transcription	HUVEC	blood vessel
41	chr13:76341800-76343800	Enhancers	Hela-S3	cervix
42	chr13:76341800-76352800	Weak transcription	Primary T cells from cord blood	blood
43	chr13:76342000-76343200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:76342000-76344200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:76342000-76346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:76342200-76343200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:76342200-76343400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:76342200-76344000	Weak transcription	Stomach Mucosa	stomach
49	chr13:76342200-76344400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:76342200-76344400	Weak transcription	Rectal Mucosa Donor 31	rectum

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