Variant report

Variant	rs30191
Chromosome Location	chr5:75370308-75370309
allele	A/C
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	CTCF	chr5:75370296-75370727	H1-hESC	embryonic stem cell:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
2	CTCF	chr5:75370294-75370817	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
3	RAD21	chr5:75370242-75370758	HCT-116	colon:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
4	FOXM1	chr5:75370249-75370727	GM12878	blood:	n/a	n/a
5	RAD21	chr5:75370270-75370755	MCF-7	breast:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
6	RAD21	chr5:75370280-75370721	GM12878	blood:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
7	RAD21	chr5:75370285-75370781	H1-hESC	embryonic stem cell:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
8	RAD21	chr5:75370163-75370896	SK-N-SH	brain:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
9	RAD21	chr5:75370290-75370762	A549	lung:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
10	RAD21	chr5:75370300-75370744	MCF-7	breast:	n/a	chr5:75370691-75370700 chr5:75370511-75370530
11	FOXM1	chr5:75370260-75370857	GM12878	blood:	n/a	n/a
12	RAD21	chr5:75370288-75370685	ECC-1	luminal epithelium:	n/a	chr5:75370511-75370530
13	SMC3	chr5:75370206-75370952	SK-N-SH	brain:	n/a	chr5:75370512-75370519
14	CTCF	chr5:75370264-75370666	MCF-7	breast:	n/a	chr5:75370513-75370522 chr5:75370512-75370533
15	CTCF	chr5:75370184-75370816	SK-N-SH	brain:	n/a	chr5:75370513-75370522 chr5:75370512-75370533

No.	Distal block	Cell Line	Cell type
1	chr5:75370241..75371009-chr5:75551554..75552357,4	K562	blood:
2	chr5:75370056..75370744-chr5:75551849..75552754,4	MCF-7	breast:
3	chr5:75370258..75370917-chr5:75470691..75471438,2	MCF-7	breast:
4	chr5:75370186..75371274-chr5:75551816..75552790,4	MCF-7	breast:
5	chr5:75370002..75370997-chr5:75470399..75471572,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251342	TF binding region
ENSG00000249777	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13162056	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13174796	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1393205	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1423103	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1423104	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1501905	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs1553310	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs183766	0.89[CHD][hapmap]
rs183767	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs187285	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap]
rs1910051	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2254153	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2547455	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2547456	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs258612	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258613	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs258614	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs258621	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2731732	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2731733	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2731735	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28620	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28621	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2937705	0.81[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs30192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30196	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30197	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs30198	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30199	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs30202	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30204	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs30205	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs30206	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs30249	0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs7378518	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7443455	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs993914	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv4883	chr5:75360926-75373963	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs30191	ARSB	cis	parietal	SCAN
rs30191	CTC-235G5.3	cis	Nerve Tibial	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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