Variant report

Variant	rs13181377
Chromosome Location	chr5:61550174-61550175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61549033..61550848-chr5:61552778..61554762,2	K562	blood:
2	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1108158	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11742167	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11746415	0.86[JPT][hapmap]
rs11747516	0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs11750109	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12655562	0.87[AMR][1000 genomes]
rs13155253	0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs13156073	0.86[JPT][hapmap]
rs13156695	0.87[AMR][1000 genomes]
rs13161789	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162519	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162821	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13169321	0.87[AMR][1000 genomes]
rs13170425	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13176923	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13178729	0.87[AMR][1000 genomes]
rs13188046	0.85[ASN][1000 genomes]
rs13189446	0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16890613	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16890618	0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs16890628	0.87[AMR][1000 genomes]
rs16890634	0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs16890651	0.86[JPT][hapmap];0.87[AMR][1000 genomes]
rs16898781	0.86[JPT][hapmap]
rs16898838	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2059162	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2063255	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2272291	0.88[JPT][hapmap]
rs35311093	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35572300	0.87[AMR][1000 genomes]
rs35672643	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35692500	0.91[ASN][1000 genomes]
rs35699711	0.87[AMR][1000 genomes]
rs35744020	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35746052	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35794032	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35808056	0.87[AMR][1000 genomes]
rs35842742	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36105063	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3776612	0.87[AMR][1000 genomes]
rs3776614	0.87[AMR][1000 genomes]
rs3846465	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4635894	0.82[CHB][hapmap]
rs71617421	0.91[ASN][1000 genomes]
rs71617425	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71617426	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71617427	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71617428	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71631932	0.91[ASN][1000 genomes]
rs7446543	0.87[AMR][1000 genomes]
rs971965	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv11317	chr5:61501951-61555756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv821303	chr5:61501951-61555756	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1830053	chr5:61510046-61550324	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv10702	chr5:61510435-61552062	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1826874	chr5:61512183-61552823	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
12	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
13	esv3368980	chr5:61547295-61552493	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3417818	chr5:61547295-61552493	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3448662	chr5:61547295-61552493	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv964861	chr5:61548253-61552637	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13181377	KIF2A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61534400-61552000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:61549000-61552000	Weak transcription	K562	blood
3	chr5:61549400-61551800	Enhancers	Primary T cells from cord blood	blood
4	chr5:61549800-61550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:61549800-61552000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:61549800-61552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:61549800-61553800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:61550000-61551000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:61550000-61552000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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