Variant report

Variant	rs13169321
Chromosome Location	chr5:61593895-61593896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61593661..61595529-chr5:61600373..61601956,2	K562	blood:
2	chr5:61592874..61595599-chr5:61604099..61606788,3	K562	blood:
3	chr5:61593561..61597779-chr5:61600358..61604889,4	MCF-7	breast:
4	chr5:61593407..61596088-chr5:61596627..61599078,2	K562	blood:
5	chr5:61593077..61595948-chr5:61615078..61617316,2	K562	blood:
6	chr5:61560375..61564102-chr5:61592918..61596892,3	K562	blood:
7	chr5:61591991..61594374-chr5:61603392..61605599,2	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1108158	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11740652	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11742167	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11747516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13155253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13156073	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13156695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13161789	0.87[AMR][1000 genomes]
rs13162519	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13163533	0.86[EUR][1000 genomes]
rs13170425	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13174779	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13176923	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13178729	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13181377	0.87[AMR][1000 genomes]
rs13189446	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13190153	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs153864	0.80[ASN][1000 genomes]
rs16875037	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890613	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16890618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16890651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2059162	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2063255	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2272291	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34220654	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34596001	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35238667	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35311093	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35572300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35672643	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35699711	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35744020	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35746052	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35794032	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35808056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35815430	0.96[EUR][1000 genomes]
rs35842742	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36105063	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3776612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3776614	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822487	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289514	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71617425	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71617426	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71617427	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71617428	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71617429	0.88[EUR][1000 genomes]
rs7446543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs971965	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13169321	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61591400-61597200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:61591600-61594000	Enhancers	Placenta	Placenta
3	chr5:61591600-61595600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:61591800-61594000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:61591800-61595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:61591800-61595200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:61591800-61595400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:61591800-61596800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:61592000-61595600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:61592000-61596800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:61592000-61597400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:61592600-61595600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:61592800-61594000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:61592800-61596800	Enhancers	Fetal Thymus	thymus
15	chr5:61593200-61594000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:61593200-61596800	Enhancers	Primary T cells from cord blood	blood
17	chr5:61593400-61595200	Weak transcription	Dnd41	blood
18	chr5:61593600-61594800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:61593800-61594200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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