Variant report

Variant	rs4446517
Chromosome Location	chr5:108517579-108517580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10900654	0.85[EUR][1000 genomes]
rs11240993	0.85[EUR][1000 genomes]
rs11240994	0.85[EUR][1000 genomes]
rs11240995	0.85[EUR][1000 genomes]
rs11738705	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs12519222	0.82[EUR][1000 genomes]
rs12519256	0.83[EUR][1000 genomes]
rs12521907	0.82[EUR][1000 genomes]
rs13157564	0.83[EUR][1000 genomes]
rs13159083	0.85[EUR][1000 genomes]
rs13163803	0.85[EUR][1000 genomes]
rs13176379	0.85[EUR][1000 genomes]
rs13181049	0.82[EUR][1000 genomes]
rs4320311	0.85[EUR][1000 genomes]
rs4342372	0.84[EUR][1000 genomes]
rs4365877	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4367335	0.85[EUR][1000 genomes]
rs4409140	0.85[EUR][1000 genomes]
rs4463211	0.85[EUR][1000 genomes]
rs4501376	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4645373	0.85[EUR][1000 genomes]
rs56318800	0.83[EUR][1000 genomes]
rs59383615	0.82[EUR][1000 genomes]
rs60461520	0.81[EUR][1000 genomes]
rs62376809	0.82[EUR][1000 genomes]
rs6594356	0.85[EUR][1000 genomes]
rs6594358	0.85[EUR][1000 genomes]
rs6863496	0.83[EUR][1000 genomes]
rs6877385	0.83[EUR][1000 genomes]
rs6882037	0.83[EUR][1000 genomes]
rs6888581	0.83[EUR][1000 genomes]
rs6889791	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6891602	0.85[EUR][1000 genomes]
rs6895606	0.84[EUR][1000 genomes]
rs6895876	0.85[EUR][1000 genomes]
rs7707660	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7719087	0.85[EUR][1000 genomes]
rs7719276	0.85[EUR][1000 genomes]
rs7719474	0.85[EUR][1000 genomes]
rs7719604	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
4	chr5:108496000-108532800	Weak transcription	Ovary	ovary
5	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
6	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
10	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
11	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
12	chr5:108509000-108521600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:108509200-108523200	Weak transcription	HSMM	muscle
14	chr5:108510600-108521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:108512000-108521800	Weak transcription	NHEK	skin
16	chr5:108512200-108521800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:108513400-108522000	Weak transcription	Fetal Brain Female	brain
18	chr5:108513600-108521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:108513600-108521800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:108513600-108521800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:108513600-108523000	Weak transcription	Fetal Stomach	stomach
22	chr5:108513800-108521600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:108513800-108521800	Weak transcription	Fetal Lung	lung
24	chr5:108513800-108523200	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:108514000-108521400	Weak transcription	Adipose Nuclei	Adipose
27	chr5:108514000-108523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:108514200-108521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:108514800-108521800	Weak transcription	Liver	Liver
30	chr5:108514800-108525400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:108515200-108527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:108516200-108521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:108516200-108521600	Weak transcription	HMEC	breast
34	chr5:108517200-108521800	Weak transcription	Lung	lung
35	chr5:108517200-108523000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:108517200-108523400	Weak transcription	Thymus	Thymus
37	chr5:108517200-108533000	Weak transcription	Fetal Kidney	kidney
38	chr5:108517400-108518800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:108517400-108523400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:108517400-108527600	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links