Variant report

Variant	rs10518507
Chromosome Location	chr4:127671942-127671943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127663543..127666965-chr4:127667854..127672679,5	K562	blood:
2	chr4:127667569..127670144-chr4:127670495..127672656,2	K562	blood:
3	chr4:127667569..127669077-chr4:127671156..127673046,2	K562	blood:
4	chr4:127656785..127658564-chr4:127670907..127672656,2	K562	blood:
5	chr4:127663847..127666728-chr4:127669343..127672311,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1032819	0.93[ASN][1000 genomes]
rs1032820	0.88[ASN][1000 genomes]
rs10518505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857118	0.93[ASN][1000 genomes]
rs11098890	0.93[ASN][1000 genomes]
rs11098895	0.81[ASN][1000 genomes]
rs1167189	0.97[ASN][1000 genomes]
rs11722194	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11724202	0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11730606	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734063	0.82[ASN][1000 genomes]
rs12499781	0.93[ASN][1000 genomes]
rs12500556	0.93[ASN][1000 genomes]
rs12506431	0.93[ASN][1000 genomes]
rs12507245	0.85[ASN][1000 genomes]
rs12510029	0.93[ASN][1000 genomes]
rs12512290	0.93[ASN][1000 genomes]
rs12642024	0.90[ASN][1000 genomes]
rs12642095	0.80[ASN][1000 genomes]
rs12642632	0.81[ASN][1000 genomes]
rs12646727	0.83[ASN][1000 genomes]
rs12647245	0.81[ASN][1000 genomes]
rs12649784	1.00[JPT][hapmap]
rs13101665	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13104073	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13105260	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13111812	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13112009	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13115289	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13115416	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13117741	0.85[ASN][1000 genomes]
rs13120233	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120674	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121471	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13123489	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13129376	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13132665	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13134285	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13134708	0.87[ASN][1000 genomes]
rs13138589	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13145472	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13147181	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13147327	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13147530	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13147729	0.86[ASN][1000 genomes]
rs13150274	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150362	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1388240	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503616	0.93[ASN][1000 genomes]
rs1503618	0.90[ASN][1000 genomes]
rs1503619	0.90[ASN][1000 genomes]
rs1503622	0.81[ASN][1000 genomes]
rs1503628	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1604723	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16997928	0.93[ASN][1000 genomes]
rs17011502	0.93[ASN][1000 genomes]
rs17011512	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011514	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011515	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011593	0.93[ASN][1000 genomes]
rs17011614	0.86[ASN][1000 genomes]
rs1847345	0.88[ASN][1000 genomes]
rs1955280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995473	0.93[ASN][1000 genomes]
rs2391093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391100	0.81[ASN][1000 genomes]
rs2391101	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34078351	0.94[ASN][1000 genomes]
rs35119048	0.90[ASN][1000 genomes]
rs35815056	0.93[ASN][1000 genomes]
rs4295276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4373174	0.93[ASN][1000 genomes]
rs4413416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833352	0.81[AMR][1000 genomes]
rs4833353	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833354	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834141	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57858535	0.90[ASN][1000 genomes]
rs57921410	0.91[ASN][1000 genomes]
rs57945585	0.91[ASN][1000 genomes]
rs59049129	0.91[ASN][1000 genomes]
rs60076307	0.88[ASN][1000 genomes]
rs60726529	0.84[ASN][1000 genomes]
rs60860289	0.88[ASN][1000 genomes]
rs62322170	0.90[ASN][1000 genomes]
rs62322171	0.90[ASN][1000 genomes]
rs62322173	0.91[ASN][1000 genomes]
rs62322183	0.85[ASN][1000 genomes]
rs62322186	0.81[ASN][1000 genomes]
rs62324214	0.93[ASN][1000 genomes]
rs62324216	0.95[ASN][1000 genomes]
rs62324219	0.95[ASN][1000 genomes]
rs62324227	0.93[ASN][1000 genomes]
rs62324228	0.93[ASN][1000 genomes]
rs62324229	0.93[ASN][1000 genomes]
rs62324230	0.93[ASN][1000 genomes]
rs6534582	0.89[ASN][1000 genomes]
rs6811594	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6839577	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6857787	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72674477	0.95[ASN][1000 genomes]
rs72674480	0.93[ASN][1000 genomes]
rs7660971	0.93[ASN][1000 genomes]
rs7661738	0.90[ASN][1000 genomes]
rs7664355	0.92[ASN][1000 genomes]
rs7665607	0.81[ASN][1000 genomes]
rs7688921	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7695444	0.86[ASN][1000 genomes]
rs7696279	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv879907	chr4:127646765-127709859	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518507	ABCA13	trans	cerebellum	SCAN
rs10518507	PLK4	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127671600-127673600	Enhancers	Fetal Heart	heart
2	chr4:127671800-127672400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:127671800-127677000	Enhancers	K562	blood

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