Variant report

Variant	rs283054
Chromosome Location	chr6:118649800-118649801
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	chr6:118648196..118651295-chr6:118653045..118655021,3	K562	blood:
2	chr6:118649795..118651737-chr6:118653045..118655743,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs172212	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1761631	0.90[ASN][1000 genomes]
rs1874082	0.88[AMR][1000 genomes]
rs190756	0.85[CHB][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.89[AMR][1000 genomes]
rs1923282	0.83[CHB][hapmap]
rs2501470	0.93[ASN][1000 genomes]
rs281866	0.85[CHB][hapmap]
rs281869	0.91[ASW][hapmap];0.85[CHB][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs281872	0.85[CHB][hapmap]
rs283047	0.89[AMR][1000 genomes]
rs283051	0.89[AMR][1000 genomes]
rs283052	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283053	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283055	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs283061	0.89[AMR][1000 genomes]
rs283067	0.89[AMR][1000 genomes]
rs2883849	0.85[CHB][hapmap]
rs387266	0.89[AMR][1000 genomes]
rs413876	0.84[CHB][hapmap];0.84[AMR][1000 genomes]
rs427027	0.83[CHB][hapmap]
rs450093	0.84[CHB][hapmap];0.88[AMR][1000 genomes]
rs4945621	0.91[ASN][1000 genomes]
rs4946339	0.81[AFR][1000 genomes]
rs9320646	0.84[CHB][hapmap]
rs937277	0.90[ASN][1000 genomes]
rs9385038	0.84[CHB][hapmap];0.87[YRI][hapmap];0.82[AMR][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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs283054	NT5DC1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118646600-118650200	Enhancers	Rectal Smooth Muscle	rectum
2	chr6:118647000-118649800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:118648600-118653000	Weak transcription	Psoas Muscle	Psoas
4	chr6:118649000-118650000	Enhancers	Stomach Smooth Muscle	stomach
5	chr6:118649000-118656200	Weak transcription	Aorta	Aorta
6	chr6:118649000-118656600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:118649200-118654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:118649400-118649800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:118649600-118650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:118649600-118650200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:118649800-118650000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:118649800-118650000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:118649800-118650000	Enhancers	Skeletal Muscle Female	skeletal muscle

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