Variant report

Variant	rs524961
Chromosome Location	chr13:96612895-96612896
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1093275	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1707244	0.96[AFR][1000 genomes]
rs17885047	1.00[EUR][1000 genomes]
rs2389568	0.96[AFR][1000 genomes]
rs3101572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3125432	1.00[EUR][1000 genomes]
rs3125437	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs478025	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs481049	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs481124	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs509323	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs519826	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs530195	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs534493	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs545894	0.81[AFR][1000 genomes]
rs548964	1.00[EUR][1000 genomes]
rs555120	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs559847	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs562356	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs574109	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs592640	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs687921	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7982873	0.96[AFR][1000 genomes]
rs816137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs816138	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs816141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9525075	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9525076	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9584319	1.00[EUR][1000 genomes]
rs9584345	1.00[AMR][1000 genomes];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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96577000-96623200	Weak transcription	NHLF	lung
2	chr13:96589000-96615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:96591600-96622000	Weak transcription	Hela-S3	cervix
4	chr13:96592200-96616200	Weak transcription	Brain Angular Gyrus	brain
5	chr13:96594600-96613000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:96599000-96623600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr13:96599400-96620600	Weak transcription	HSMM	muscle
8	chr13:96599600-96613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:96599600-96613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:96600200-96620800	Weak transcription	Osteobl	bone
11	chr13:96601200-96613200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:96604000-96613000	Weak transcription	Right Ventricle	heart
13	chr13:96604000-96620600	Weak transcription	Left Ventricle	heart
14	chr13:96609400-96623600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:96609800-96613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:96609800-96636200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:96611200-96613400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:96611200-96613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr13:96611600-96613400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr13:96611800-96613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:96611800-96613200	ZNF genes & repeats	A549	lung
22	chr13:96611800-96614200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:96611800-96620600	Weak transcription	Ovary	ovary
24	chr13:96612000-96613000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:96612000-96613200	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr13:96612000-96613600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr13:96612000-96620600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:96612200-96613600	Weak transcription	Gastric	stomach
29	chr13:96612200-96620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:96612200-96620600	Weak transcription	Aorta	Aorta
31	chr13:96612200-96620800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:96612200-96622800	Weak transcription	Spleen	Spleen
33	chr13:96612200-96623600	Weak transcription	Placenta	Placenta
34	chr13:96612200-96655000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:96612200-96668600	Weak transcription	Pancreas	Pancrea
36	chr13:96612400-96613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:96612400-96613200	Weak transcription	Fetal Lung	lung
38	chr13:96612400-96613400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:96612400-96621000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:96612400-96623200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:96612800-96614000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:96612800-96614200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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