Variant report

Variant	rs10191479
Chromosome Location	chr2:47469711-47469712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47462369..47466702-chr2:47468560..47470875,4	K562	blood:
2	chr2:47402721..47404828-chr2:47466923..47470052,3	MCF-7	breast:
3	chr2:47399058..47406701-chr2:47458639..47471254,30	K562	blood:
4	chr2:47468738..47470603-chr2:47472163..47473920,2	K562	blood:
5	chr2:47467890..47470603-chr2:47472070..47473663,2	K562	blood:
6	chr2:47406207..47408675-chr2:47468954..47471024,2	MCF-7	breast:
7	chr2:47461484..47463869-chr2:47468560..47470717,2	K562	blood:
8	chr2:47464125..47466702-chr2:47468051..47470081,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10191562	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10191564	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12328197	0.83[CHD][hapmap]
rs12467738	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6736764	0.83[CHD][hapmap]
rs931640	0.83[CHD][hapmap]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10191479	LOC100129726	cis	parietal	SCAN
rs10191479	ABCG8	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47466400-47470800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:47466800-47470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:47467000-47470800	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:47467000-47471000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:47467000-47476400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:47467200-47470600	Weak transcription	Fetal Stomach	stomach
7	chr2:47467200-47471000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:47467200-47476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:47467400-47471000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:47467400-47476000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:47467400-47476200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:47468600-47469800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:47468800-47469800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:47468800-47469800	Enhancers	K562	blood
15	chr2:47469200-47469800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:47469400-47469800	Enhancers	Fetal Heart	heart
17	chr2:47469400-47469800	Enhancers	Ovary	ovary
18	chr2:47469600-47469800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:47469600-47469800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:47469600-47470000	Enhancers	Gastric	stomach

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