Variant report

Variant	rs2344395
Chromosome Location	chr5:61577837-61577838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
2	chr5:61553876..61556282-chr5:61576708..61578826,2	K562	blood:
3	chr5:61576810..61579039-chr5:61601363..61604107,2	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10051719	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10062387	0.85[CEU][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10067200	0.83[CEU][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10075026	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10471545	0.89[CHD][hapmap]
rs12659793	0.85[CEU][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12659814	0.86[ASW][hapmap];0.85[CEU][hapmap];0.88[MEX][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1301064	0.83[MEX][hapmap]
rs13171884	0.87[AMR][1000 genomes]
rs152186	0.83[MEX][hapmap]
rs1862527	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1995782	0.86[ASW][hapmap];0.85[CEU][hapmap];0.88[MEX][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2344396	0.89[CHD][hapmap]
rs247237	0.80[ASW][hapmap];0.88[MEX][hapmap]
rs247250	0.83[MEX][hapmap]
rs247479	0.83[MEX][hapmap]
rs26635	0.83[MEX][hapmap]
rs28589513	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35119	0.83[MEX][hapmap]
rs3846467	0.85[CEU][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4145851	0.86[ASW][hapmap];0.81[CEU][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes]
rs55945562	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56049450	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56317447	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6449593	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449594	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732509	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
9	nsv598337	chr5:61575444-61577837	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv598340	chr5:61575546-61577837	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv598343	chr5:61575604-61577837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv598346	chr5:61575657-61577837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2344395	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61575600-61578000	Enhancers	NHEK	skin
2	chr5:61575800-61578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:61575800-61579000	Enhancers	HMEC	breast
4	chr5:61575800-61580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:61576800-61579200	Weak transcription	Placenta	Placenta
6	chr5:61577000-61580400	Enhancers	Fetal Intestine Large	intestine
7	chr5:61577400-61578800	Enhancers	Brain Germinal Matrix	brain
8	chr5:61577400-61579600	Enhancers	K562	blood
9	chr5:61577400-61580600	Enhancers	Fetal Intestine Small	intestine
10	chr5:61577800-61578200	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:61577800-61578200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:61577800-61578200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:61577800-61578200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:61577800-61579400	Enhancers	Rectal Mucosa Donor 31	rectum

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