Variant report

Variant	rs1371530
Chromosome Location	chr2:188953133-188953134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188952317..188954845-chr2:189154060..189156611,2	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10460382	0.89[ASN][1000 genomes]
rs10469734	1.00[CHB][hapmap]
rs12478374	0.89[ASN][1000 genomes]
rs12615631	0.89[ASN][1000 genomes]
rs12693490	1.00[CHB][hapmap]
rs12990029	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12992671	0.84[ASN][1000 genomes]
rs12993224	0.82[ASN][1000 genomes]
rs13003972	1.00[CHB][hapmap]
rs13006933	0.95[ASN][1000 genomes]
rs13015608	0.89[ASN][1000 genomes]
rs13021054	0.89[ASN][1000 genomes]
rs13021984	0.89[ASN][1000 genomes]
rs13023212	0.89[ASN][1000 genomes]
rs13024023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13027989	0.89[ASN][1000 genomes]
rs13403228	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs13429075	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1371527	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1371528	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1371529	0.89[ASN][1000 genomes]
rs1439898	0.89[ASN][1000 genomes]
rs1439900	0.89[ASN][1000 genomes]
rs1439901	0.89[ASN][1000 genomes]
rs1439909	0.89[ASN][1000 genomes]
rs16829628	1.00[ASW][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs16829839	0.89[ASN][1000 genomes]
rs2028374	0.89[ASN][1000 genomes]
rs2350563	0.89[ASN][1000 genomes]
rs34699014	0.95[ASN][1000 genomes]
rs34836837	0.89[ASN][1000 genomes]
rs35113537	0.89[ASN][1000 genomes]
rs35311707	0.89[ASN][1000 genomes]
rs4427987	0.89[ASN][1000 genomes]
rs4535011	1.00[CHB][hapmap]
rs4667212	0.89[ASN][1000 genomes]
rs55755436	0.89[ASN][1000 genomes]
rs62180847	0.89[ASN][1000 genomes]
rs6434262	0.89[ASN][1000 genomes]
rs6707652	0.89[ASN][1000 genomes]
rs67082838	0.95[ASN][1000 genomes]
rs6712945	0.89[ASN][1000 genomes]
rs6718697	1.00[CHB][hapmap]
rs6723998	0.89[ASN][1000 genomes]
rs67732490	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs67804711	0.89[ASN][1000 genomes]
rs68028976	0.89[ASN][1000 genomes]
rs72907984	0.95[ASN][1000 genomes]
rs72909886	0.95[ASN][1000 genomes]
rs7565935	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs920408	0.89[ASN][1000 genomes]
rs971268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9808523	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs9808557	1.00[CHB][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584045	chr2:188949715-189003106	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1371530	COL3A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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