Variant report

Variant	rs10063089
Chromosome Location	chr5:52135878-52135879
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52135037..52137310-chr5:52140806..52143262,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041465	1.00[AMR][1000 genomes]
rs10042066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10078136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28666730	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28701709	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58967333	1.00[AMR][1000 genomes]
rs59337949	1.00[AMR][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6450077	1.00[AMR][1000 genomes]
rs6882082	1.00[AMR][1000 genomes]
rs6886933	1.00[AMR][1000 genomes]
rs73108322	1.00[AMR][1000 genomes]
rs7729056	1.00[AMR][1000 genomes]
rs9291996	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1032554	chr5:52126688-52174119	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52118600-52137600	Weak transcription	Small Intestine	intestine
2	chr5:52124800-52136200	Weak transcription	Psoas Muscle	Psoas
3	chr5:52126800-52136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:52130400-52141200	Weak transcription	Ovary	ovary
5	chr5:52132400-52136000	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:52133200-52138000	Weak transcription	Spleen	Spleen
7	chr5:52133200-52138200	Enhancers	Fetal Kidney	kidney
8	chr5:52133200-52141200	Weak transcription	Left Ventricle	heart
9	chr5:52133200-52143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:52133400-52136000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:52133400-52136000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:52133400-52136000	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:52133600-52136000	Weak transcription	Adipose Nuclei	Adipose
14	chr5:52133600-52136000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:52133600-52136000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:52133600-52136000	Enhancers	NH-A	brain
17	chr5:52133600-52136000	Enhancers	NHLF	lung
18	chr5:52133600-52136200	Weak transcription	HSMMtube	muscle
19	chr5:52133800-52136000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:52133800-52136000	Weak transcription	Fetal Stomach	stomach
21	chr5:52134000-52136000	Weak transcription	Aorta	Aorta
22	chr5:52134000-52136000	Weak transcription	Fetal Lung	lung
23	chr5:52134200-52140800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:52134400-52136000	Weak transcription	Osteobl	bone
25	chr5:52134600-52140800	Weak transcription	Hela-S3	cervix
26	chr5:52134600-52141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:52135000-52136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:52135000-52141200	Weak transcription	Esophagus	oesophagus
29	chr5:52135200-52136000	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:52135200-52138400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:52135400-52136000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:52135400-52136000	Enhancers	Colon Smooth Muscle	Colon
33	chr5:52135600-52136000	Enhancers	Brain Anterior Caudate	brain
34	chr5:52135600-52136000	Enhancers	NHDF-Ad	bronchial
35	chr5:52135600-52136200	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:52135600-52137000	Flanking Active TSS	Dnd41	blood
37	chr5:52135600-52137200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:52135800-52136000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:52135800-52136000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:52135800-52136000	Enhancers	Brain Substantia Nigra	brain
41	chr5:52135800-52136000	Enhancers	Right Atrium	heart
42	chr5:52135800-52136400	Enhancers	HUVEC	blood vessel
43	chr5:52135800-52136800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:52135800-52137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:52135800-52145400	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links