Variant report

Variant	rs28393018
Chromosome Location	chr8:8954371-8954372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8952654..8954720-chr8:9007801..9010554,2	MCF-7	breast:
2	chr8:8952658..8954471-chr8:8958046..8960043,2	K562	blood:
3	chr8:8953373..8954963-chr8:8956530..8958609,2	MCF-7	breast:
4	chr8:8943472..8945578-chr8:8953667..8955933,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10087078	0.86[EUR][1000 genomes]
rs11782826	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17155239	0.84[EUR][1000 genomes]
rs17646379	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841096	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68028738	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73197728	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73197730	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73197735	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73197740	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:8950600-8954600	Enhancers	Stomach Mucosa	stomach
3	chr8:8951600-8954600	Enhancers	A549	lung
4	chr8:8951800-8954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:8951800-8954600	Enhancers	Liver	Liver
6	chr8:8951800-8954600	Enhancers	Ovary	ovary
7	chr8:8952200-8957800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:8952200-8958400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:8952800-8954400	Enhancers	Fetal Intestine Small	intestine
10	chr8:8953000-8954600	Enhancers	Fetal Intestine Large	intestine
11	chr8:8953200-8955200	Enhancers	Gastric	stomach
12	chr8:8953200-8955200	Enhancers	Pancreas	Pancrea
13	chr8:8953200-8958800	Weak transcription	Fetal Lung	lung
14	chr8:8953400-8954400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:8953800-8954600	Enhancers	Lung	lung
16	chr8:8954000-8954800	Bivalent Enhancer	HepG2	liver
17	chr8:8954000-8956600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:8954000-8957200	Weak transcription	Fetal Heart	heart
19	chr8:8954000-8959400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:8954000-8959600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:8954200-8957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:8954200-8959200	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:8954200-8960400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:8954200-8960800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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