Variant report

Variant	rs6913444
Chromosome Location	chr6:133454738-133454739
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	chr6:133423980..133426292-chr6:133454398..133456094,2	K562	blood:
2	chr6:133432444..133434710-chr6:133454320..133456376,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10457600	0.96[EUR][1000 genomes]
rs10457602	1.00[CEU][hapmap]
rs10457603	1.00[CEU][hapmap]
rs11154715	0.93[EUR][1000 genomes]
rs12154207	0.93[EUR][1000 genomes]
rs12190728	0.92[EUR][1000 genomes]
rs12191026	0.93[EUR][1000 genomes]
rs12192002	0.83[EUR][1000 genomes]
rs12192605	0.83[EUR][1000 genomes]
rs12196069	0.92[EUR][1000 genomes]
rs12196492	0.93[EUR][1000 genomes]
rs12199138	0.96[EUR][1000 genomes]
rs12199555	0.93[EUR][1000 genomes]
rs12199738	0.83[EUR][1000 genomes]
rs12199958	0.93[EUR][1000 genomes]
rs12200393	0.93[EUR][1000 genomes]
rs12201315	1.00[CEU][hapmap]
rs12206291	0.92[EUR][1000 genomes]
rs12210216	0.93[EUR][1000 genomes]
rs12211999	0.93[EUR][1000 genomes]
rs12213350	0.96[EUR][1000 genomes]
rs12213452	0.96[EUR][1000 genomes]
rs12213690	0.93[EUR][1000 genomes]
rs12215217	0.96[EUR][1000 genomes]
rs1856291	0.82[EUR][1000 genomes]
rs28538690	0.81[EUR][1000 genomes]
rs4273707	0.82[EUR][1000 genomes]
rs4273708	0.82[EUR][1000 genomes]
rs57161827	0.83[EUR][1000 genomes]
rs59793266	0.93[EUR][1000 genomes]
rs62428563	0.97[EUR][1000 genomes]
rs62428596	0.93[EUR][1000 genomes]
rs62428597	0.91[EUR][1000 genomes]
rs62430588	0.82[EUR][1000 genomes]
rs62430590	0.82[EUR][1000 genomes]
rs6569863	0.81[CEU][hapmap]
rs6902225	0.91[EUR][1000 genomes]
rs6927627	0.82[EUR][1000 genomes]
rs6935070	0.82[EUR][1000 genomes]
rs6935480	0.82[EUR][1000 genomes]
rs6936410	0.82[EUR][1000 genomes]
rs6937029	0.81[EUR][1000 genomes]
rs6940959	0.82[EUR][1000 genomes]
rs72557636	0.80[EUR][1000 genomes]
rs7738156	0.82[EUR][1000 genomes]
rs7738592	0.82[EUR][1000 genomes]
rs7746390	0.93[EUR][1000 genomes]
rs7748926	0.95[EUR][1000 genomes]
rs7749533	0.80[EUR][1000 genomes]
rs7750218	0.95[EUR][1000 genomes]
rs7750279	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7750376	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7754486	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7756171	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs7756963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761372	0.83[EUR][1000 genomes]
rs7766470	0.83[EUR][1000 genomes]
rs7767378	0.85[EUR][1000 genomes]
rs7767651	0.93[EUR][1000 genomes]
rs7770031	0.95[EUR][1000 genomes]
rs7773069	0.87[EUR][1000 genomes]
rs9483529	0.82[EUR][1000 genomes]
rs9483530	0.82[EUR][1000 genomes]
rs9483535	0.82[EUR][1000 genomes]
rs9483554	0.97[EUR][1000 genomes]
rs9483557	0.84[EUR][1000 genomes]
rs9493515	0.82[EUR][1000 genomes]
rs9493517	0.82[EUR][1000 genomes]
rs9493518	0.82[EUR][1000 genomes]
rs9493540	0.86[EUR][1000 genomes]
rs9493544	0.85[EUR][1000 genomes]
rs957183	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	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
3	nsv519475	chr6:133350936-133474673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6913444	HBS1L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133448600-133455200	Enhancers	Fetal Muscle Leg	muscle
2	chr6:133453800-133457600	Weak transcription	Brain Germinal Matrix	brain
3	chr6:133454000-133457400	Weak transcription	Brain Substantia Nigra	brain
4	chr6:133454200-133455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:133454200-133457000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:133454200-133457200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:133454200-133457200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:133454600-133457200	Weak transcription	Fetal Kidney	kidney
9	chr6:133454600-133457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links