Variant report

Variant	rs12119596
Chromosome Location	chr1:171449871-171449872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171449410..171451511-chr1:171453744..171456150,2	MCF-7	breast:
2	chr1:171449334..171452754-chr1:171452810..171456877,5	K562	blood:
3	chr1:171447976..171450834-chr1:171452810..171454911,2	K562	blood:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1055417	0.90[ASN][1000 genomes]
rs10913167	0.81[ASN][1000 genomes]
rs12129856	0.90[ASN][1000 genomes]
rs12131694	0.86[ASN][1000 genomes]
rs12136576	0.81[ASN][1000 genomes]
rs12137832	0.81[ASN][1000 genomes]
rs12139715	0.81[ASN][1000 genomes]
rs12142594	0.81[ASN][1000 genomes]
rs12145045	0.81[ASN][1000 genomes]
rs12146022	0.95[ASN][1000 genomes]
rs12733939	0.90[ASN][1000 genomes]
rs12734261	0.81[ASN][1000 genomes]
rs12759907	0.90[ASN][1000 genomes]
rs2294292	0.90[ASN][1000 genomes]
rs2294293	0.90[ASN][1000 genomes]
rs28661007	0.81[EUR][1000 genomes]
rs56207586	0.90[ASN][1000 genomes]
rs71637410	0.87[ASN][1000 genomes]
rs74122850	0.90[ASN][1000 genomes]
rs7534464	0.81[ASN][1000 genomes]
rs7534557	0.81[ASN][1000 genomes]
rs7538745	0.81[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171447400-171453400	Weak transcription	HSMMtube	muscle
2	chr1:171447400-171453800	Weak transcription	K562	blood
3	chr1:171449600-171453200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:171449600-171453400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:171449600-171453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:171449600-171453400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:171449600-171453800	Weak transcription	Fetal Kidney	kidney
8	chr1:171449600-171454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:171449600-171454000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:171449600-171454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:171449800-171450000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:171449800-171451000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:171449800-171454000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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