Variant report

Variant	rs4700004
Chromosome Location	chr5:61560978-61560979
allele	A/C
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	chr5:61539663..61541258-chr5:61560288..61563274,2	K562	blood:
2	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:
3	chr5:61560375..61564102-chr5:61592918..61596892,3	K562	blood:
4	chr5:61560033..61563867-chr5:61600448..61603571,4	K562	blood:
5	chr5:61560127..61563609-chr5:61600323..61607787,9	K562	blood:
6	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
7	chr5:61560127..61563309-chr5:61603579..61607776,4	K562	blood:
8	chr5:61539494..61542163-chr5:61560247..61562435,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10044843	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10461472	0.89[CEU][hapmap]
rs10471545	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13159750	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13361143	0.89[CEU][hapmap]
rs149540	0.84[CEU][hapmap]
rs152184	0.84[CEU][hapmap]
rs152187	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs152191	0.84[CEU][hapmap]
rs152192	0.83[CEU][hapmap]
rs152215	0.84[CEU][hapmap]
rs153857	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs153858	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs153862	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs16890622	0.88[CEU][hapmap]
rs173522	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs174647	0.89[CEU][hapmap]
rs2112884	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289883	0.88[CEU][hapmap]
rs2344396	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs247229	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs247233	0.84[CEU][hapmap]
rs247240	0.84[CEU][hapmap]
rs247244	0.84[CEU][hapmap]
rs247245	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs247247	0.84[CEU][hapmap];0.91[CHB][hapmap]
rs247265	0.88[CEU][hapmap]
rs247270	0.88[CEU][hapmap]
rs264530	0.88[CEU][hapmap]
rs27542	0.87[CEU][hapmap];0.87[CHB][hapmap]
rs27693	0.84[CEU][hapmap]
rs35010	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs35059	0.87[CEU][hapmap];0.87[CHB][hapmap]
rs3822485	0.88[CEU][hapmap]
rs3846466	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4037273	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4290970	0.81[AMR][1000 genomes]
rs4441833	0.88[CEU][hapmap]
rs4700006	0.84[CEU][hapmap]
rs6449593	0.80[CHB][hapmap]
rs7702634	0.89[CEU][hapmap]
rs784921	0.84[CEU][hapmap]
rs9291756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959899	0.84[CEU][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
rs4700004	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61557600-61561000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:61557800-61561600	Weak transcription	Psoas Muscle	Psoas
3	chr5:61557800-61563400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:61558400-61561000	Weak transcription	Brain Germinal Matrix	brain
5	chr5:61558400-61564200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:61559000-61561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:61559600-61561400	Weak transcription	K562	blood
8	chr5:61560600-61561000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:61560800-61564400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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