Variant report

Variant	rs1995782
Chromosome Location	chr5:61563586-61563587
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:
2	chr5:61560375..61564102-chr5:61592918..61596892,3	K562	blood:
3	chr5:61561722..61564557-chr5:61699479..61701538,2	K562	blood:
4	chr5:61557476..61560441-chr5:61562160..61565169,3	MCF-7	breast:
5	chr5:61560033..61563867-chr5:61600448..61603571,4	K562	blood:
6	chr5:61562054..61563623-chr5:61613957..61616407,2	K562	blood:
7	chr5:61560127..61563609-chr5:61600323..61607787,9	K562	blood:
8	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
9	chr5:61561783..61565148-chr5:61601604..61603284,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000086200	Chromatin interaction
ENSG00000086189	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10051719	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10062387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10067200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074813	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10074863	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10075026	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10461472	0.82[CHB][hapmap]
rs10471278	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10471543	0.83[AFR][1000 genomes]
rs10471544	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12655269	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659814	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13361143	0.82[CHB][hapmap]
rs13361219	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs152186	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap]
rs16890622	0.81[CHB][hapmap]
rs174647	0.82[CHB][hapmap]
rs1862527	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289883	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs2344395	0.86[ASW][hapmap];0.85[CEU][hapmap];0.88[MEX][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs247225	0.82[AFR][1000 genomes]
rs247227	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs247231	1.00[CHB][hapmap]
rs247237	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap]
rs247250	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap]
rs247254	0.83[AFR][1000 genomes]
rs247264	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs247265	0.82[CHB][hapmap]
rs247266	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs247479	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap]
rs28589513	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35119	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.96[MEX][hapmap]
rs35348760	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3822485	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs3846467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4145851	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4441833	0.82[CHB][hapmap]
rs56049450	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56317447	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6449593	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs6449594	0.82[AMR][1000 genomes]
rs7702634	0.81[CHB][hapmap]
rs784916	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap]
rs959899	0.81[CHD][hapmap]

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	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1995782	DIMT1L	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61558400-61564200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:61560800-61564400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:61561600-61564400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:61563200-61564800	Enhancers	Fetal Intestine Small	intestine
5	chr5:61563200-61564800	Enhancers	Hela-S3	cervix
6	chr5:61563200-61565000	Enhancers	Fetal Intestine Large	intestine
7	chr5:61563200-61565000	Enhancers	HMEC	breast
8	chr5:61563400-61565000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:61563400-61565200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:61563400-61566600	Weak transcription	K562	blood

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