Variant report

Variant	rs1000404
Chromosome Location	chr5:79099759-79099760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79096458..79100446-chr5:79100447..79105035,6	K562	blood:
2	chr5:79098114..79100866-chr5:79109672..79112209,2	K562	blood:

Variant related genes	Relation type
ENSG00000250258	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10491460	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16877221	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16877234	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405970	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470913	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34426200	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34892951	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35278462	1.00[ASN][1000 genomes]
rs62363716	1.00[ASN][1000 genomes]
rs6897751	0.84[EUR][1000 genomes]
rs71634994	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709886	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021113	chr5:79034662-79289828	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79084800-79107400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:79085000-79102200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:79091000-79100400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:79092000-79101800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:79092000-79102200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:79092000-79102600	Weak transcription	Fetal Stomach	stomach
7	chr5:79092000-79103200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:79093600-79100600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:79094600-79102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:79097000-79102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:79097200-79105200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:79097400-79100800	Weak transcription	Placenta	Placenta
13	chr5:79097600-79102200	Weak transcription	Ovary	ovary
14	chr5:79097800-79105600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:79098400-79102600	Weak transcription	Fetal Thymus	thymus
16	chr5:79098600-79102400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:79098800-79100000	Enhancers	Psoas Muscle	Psoas
18	chr5:79099000-79100200	Genic enhancers	Fetal Heart	heart
19	chr5:79099200-79100600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:79099200-79102400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:79099200-79102400	Weak transcription	Dnd41	blood
22	chr5:79099200-79102400	Weak transcription	K562	blood
23	chr5:79099400-79100000	Enhancers	Fetal Muscle Leg	muscle
24	chr5:79099400-79102200	Weak transcription	Left Ventricle	heart
25	chr5:79099400-79102200	Weak transcription	Right Ventricle	heart
26	chr5:79099400-79111000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links