Variant report

Variant	rs73424395
Chromosome Location	chr6:43988536-43988537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43985949..43988474-chr6:43988531..43990838,2	K562	blood:
2	chr6:43988414..43990110-chr6:44026302..44028662,2	K562	blood:
3	chr6:43882397..43883979-chr6:43987141..43989215,2	K562	blood:
4	chr6:43988303..43990110-chr6:44025213..44028662,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58521541	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032608	1.00[EUR][1000 genomes]
rs73424375	1.00[EUR][1000 genomes]
rs73424378	1.00[EUR][1000 genomes]
rs73424380	1.00[EUR][1000 genomes]
rs7761945	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768309	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768465	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7772862	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9381275	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462934	chr6:43956615-44007446	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv603001	chr6:43956615-44007446	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43979400-44010400	Weak transcription	Pancreas	Pancrea
2	chr6:43979600-44002200	Weak transcription	Right Ventricle	heart
3	chr6:43980200-43991200	Weak transcription	Left Ventricle	heart
4	chr6:43984600-43990000	Weak transcription	NH-A	brain
5	chr6:43985200-43990200	Weak transcription	Hela-S3	cervix
6	chr6:43986800-43990600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:43987000-43991200	Enhancers	Fetal Stomach	stomach
8	chr6:43987000-43993200	Enhancers	Fetal Muscle Trunk	muscle
9	chr6:43987200-43988600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:43987200-43988600	Enhancers	Fetal Lung	lung
11	chr6:43987200-43992800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:43987200-43993200	Enhancers	Fetal Muscle Leg	muscle
13	chr6:43987200-43995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:43987600-43990600	Enhancers	NHDF-Ad	bronchial
15	chr6:43988000-43988600	Enhancers	Spleen	Spleen
16	chr6:43988000-43988600	Enhancers	Osteobl	bone
17	chr6:43988000-43990600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:43988000-43991600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:43988200-43988600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:43988200-43988600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:43988200-43988800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:43988200-43991800	Weak transcription	Ovary	ovary
23	chr6:43988200-43993000	Enhancers	HSMM	muscle
24	chr6:43988200-43996400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:43988400-43988600	Enhancers	Right Atrium	heart
26	chr6:43988400-43989000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr6:43988400-43989000	Enhancers	HUVEC	blood vessel
28	chr6:43988400-43990000	Weak transcription	NHLF	lung

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