Variant report

Variant	rs9448843
Chromosome Location	chr6:80580355-80580356
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:80577105-80580479	SK-N-SH	brain:	n/a	chr6:80578023-80578042 chr6:80579004-80579018 chr6:80579461-80579475 chr6:80579484-80579498 chr6:80578027-80578037 chr6:80579477-80579496

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80577959..80580872-chr6:80588146..80590140,2	K562	blood:
2	chr6:80579385..80581106-chr6:80583521..80585496,2	K562	blood:

Variant related genes	Relation type
ENSG00000233835	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34285052	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71565054	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9343943	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9343946	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9350832	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352776	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352779	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs992015	0.92[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3693359	chr6:80539454-80606537	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80576600-80582200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:80577400-80583400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:80577600-80583200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:80578000-80582800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:80579200-80580400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:80579800-80580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:80579800-80580800	Weak transcription	Stomach Mucosa	stomach
8	chr6:80579800-80581000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:80579800-80581200	Enhancers	Brain Germinal Matrix	brain
10	chr6:80579800-80582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:80579800-80582600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:80579800-80582800	Weak transcription	Fetal Intestine Large	intestine
13	chr6:80579800-80583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:80579800-80588000	Weak transcription	Adipose Nuclei	Adipose
15	chr6:80579800-80588000	Weak transcription	Placenta	Placenta
16	chr6:80580000-80580400	Enhancers	Gastric	stomach
17	chr6:80580000-80582400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:80580000-80582600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:80580000-80582600	Weak transcription	Fetal Heart	heart
20	chr6:80580000-80584400	Enhancers	Liver	Liver
21	chr6:80580200-80581600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:80580200-80582000	Weak transcription	HMEC	breast
23	chr6:80580200-80582000	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links