Variant report

Variant	rs9402484
Chromosome Location	chr6:133502198-133502199
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	chr6:133133722..133135487-chr6:133500551..133504315,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10872402	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11154715	0.83[ASN][1000 genomes]
rs12154207	0.83[ASN][1000 genomes]
rs12190309	0.95[CEU][hapmap]
rs12190728	0.83[ASN][1000 genomes]
rs12191026	0.83[ASN][1000 genomes]
rs12193038	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12193158	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12196069	0.83[ASN][1000 genomes]
rs12196492	0.83[ASN][1000 genomes]
rs12199555	0.83[ASN][1000 genomes]
rs12199738	0.84[ASN][1000 genomes]
rs12199958	0.83[ASN][1000 genomes]
rs12200393	0.83[ASN][1000 genomes]
rs12202540	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12204996	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12206438	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12210216	0.83[ASN][1000 genomes]
rs12211999	0.83[ASN][1000 genomes]
rs12213690	0.83[ASN][1000 genomes]
rs1415858	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1856291	0.84[ASN][1000 genomes]
rs2180729	0.89[CEU][hapmap]
rs28620929	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3756869	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs3756871	0.80[ASN][1000 genomes]
rs3756872	0.80[ASN][1000 genomes]
rs3777785	0.90[CEU][hapmap]
rs3777796	0.90[CEU][hapmap]
rs3777799	0.90[CEU][hapmap]
rs59793266	0.83[ASN][1000 genomes]
rs62428596	0.83[ASN][1000 genomes]
rs62428597	0.83[ASN][1000 genomes]
rs6912995	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6927143	0.87[ASN][1000 genomes]
rs7746298	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7746390	0.83[ASN][1000 genomes]
rs7748926	0.83[ASN][1000 genomes]
rs7752905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754501	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7763647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7766470	0.84[ASN][1000 genomes]
rs7767378	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7767651	0.83[ASN][1000 genomes]
rs7773069	0.84[ASN][1000 genomes]
rs9321393	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9373038	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373041	0.90[CEU][hapmap]
rs9375940	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375942	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375943	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9375948	0.90[CEU][hapmap];0.81[CHB][hapmap]
rs9375949	0.90[CEU][hapmap]
rs9385640	0.90[CEU][hapmap]
rs9385641	0.90[CEU][hapmap]
rs9389052	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9389061	0.90[CEU][hapmap]
rs9399052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399053	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9399054	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402486	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402487	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402489	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402493	0.90[CEU][hapmap]
rs9402494	0.90[CEU][hapmap]
rs9402497	0.90[CEU][hapmap]
rs9483557	0.84[ASN][1000 genomes]
rs9483560	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9493544	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9493554	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968274	0.96[AFR][1000 genomes]

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	nsv428154	chr6:133271975-133522803	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv886677	chr6:133454738-133515602	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv524926	chr6:133492507-133510691	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv464058	chr6:133492507-133527935	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv604698	chr6:133492507-133527935	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9402484	HBS1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133501200-133506400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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