Variant report

Variant	rs17073418
Chromosome Location	chr13:30028050-30028051
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30019008..30022354-chr13:30026041..30029936,4	K562	blood:
2	chr13:30023123..30025687-chr13:30027980..30030025,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs17073389	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17073395	1.00[EUR][1000 genomes]
rs17073412	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073426	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17073446	0.80[YRI][hapmap]
rs17073464	0.80[YRI][hapmap]
rs17073469	0.81[YRI][hapmap]
rs17658712	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17658743	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1986717	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2388077	1.00[EUR][1000 genomes]
rs3923361	1.00[EUR][1000 genomes]
rs4379923	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4503648	0.81[YRI][hapmap]
rs4512950	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4616138	0.97[EUR][1000 genomes]
rs4769742	0.81[EUR][1000 genomes]
rs55842638	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56091401	0.97[EUR][1000 genomes]
rs56394814	1.00[EUR][1000 genomes]
rs57161860	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57762277	1.00[EUR][1000 genomes]
rs57959769	1.00[EUR][1000 genomes]
rs57993747	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58044581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58848825	1.00[EUR][1000 genomes]
rs59698584	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60642819	1.00[EUR][1000 genomes]
rs60977472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61139396	0.97[EUR][1000 genomes]
rs61281018	0.97[EUR][1000 genomes]
rs71090257	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7317720	1.00[EUR][1000 genomes]
rs7335252	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7336242	1.00[CEU][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7339339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73444071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73444079	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444086	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73444091	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73444093	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73444097	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444099	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444101	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73446103	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73446106	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73446109	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73446111	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74042075	0.95[EUR][1000 genomes]
rs74042084	1.00[EUR][1000 genomes]
rs74042085	0.81[EUR][1000 genomes]
rs74042086	1.00[EUR][1000 genomes]
rs74042090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74042093	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7999813	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8002833	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8003005	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9508462	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30014400-30031400	Weak transcription	Hela-S3	cervix
2	chr13:30015200-30054800	Weak transcription	Dnd41	blood
3	chr13:30016000-30028600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:30018600-30029000	Weak transcription	Esophagus	oesophagus
5	chr13:30022800-30028400	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:30023200-30029200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr13:30024400-30029000	Weak transcription	Left Ventricle	heart
8	chr13:30024600-30029000	Weak transcription	Right Ventricle	heart
9	chr13:30027000-30028200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30027000-30032000	Enhancers	Fetal Heart	heart
11	chr13:30027200-30028200	Enhancers	Stomach Smooth Muscle	stomach
12	chr13:30027200-30028600	Enhancers	Fetal Stomach	stomach
13	chr13:30027200-30029200	Enhancers	K562	blood
14	chr13:30027800-30028800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:30027800-30030400	Weak transcription	HSMMtube	muscle
16	chr13:30028000-30029200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:30028000-30030600	Weak transcription	Ovary	ovary
18	chr13:30028000-30030600	Weak transcription	NHDF-Ad	bronchial

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