Variant report

Variant	rs519777
Chromosome Location	chr6:53989038-53989039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1150876	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1150879	1.00[EUR][1000 genomes]
rs1150881	1.00[EUR][1000 genomes]
rs1150882	1.00[EUR][1000 genomes]
rs1150883	1.00[EUR][1000 genomes]
rs1150885	1.00[EUR][1000 genomes]
rs11966518	1.00[EUR][1000 genomes]
rs1280853	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1280855	1.00[EUR][1000 genomes]
rs1280856	1.00[EUR][1000 genomes]
rs1280858	1.00[EUR][1000 genomes]
rs1280859	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1280860	1.00[EUR][1000 genomes]
rs1280944	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1290258	1.00[EUR][1000 genomes]
rs1298144	1.00[TSI][hapmap]
rs1298874	1.00[EUR][1000 genomes]
rs1340669	1.00[EUR][1000 genomes]
rs1614889	1.00[EUR][1000 genomes]
rs1775795	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2754784	1.00[EUR][1000 genomes]
rs2754789	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2754791	1.00[EUR][1000 genomes]
rs2754792	1.00[EUR][1000 genomes]
rs2754799	1.00[EUR][1000 genomes]
rs2754800	1.00[EUR][1000 genomes]
rs2754803	1.00[EUR][1000 genomes]
rs2754805	1.00[EUR][1000 genomes]
rs2754806	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2754807	1.00[EUR][1000 genomes]
rs2754810	1.00[EUR][1000 genomes]
rs2754811	1.00[EUR][1000 genomes]
rs2792626	1.00[EUR][1000 genomes]
rs2792628	1.00[EUR][1000 genomes]
rs2792632	1.00[EUR][1000 genomes]
rs2792637	1.00[EUR][1000 genomes]
rs2792639	1.00[EUR][1000 genomes]
rs2792640	1.00[EUR][1000 genomes]
rs2792642	1.00[EUR][1000 genomes]
rs2792643	1.00[EUR][1000 genomes]
rs2792645	1.00[EUR][1000 genomes]
rs2792647	1.00[EUR][1000 genomes]
rs2792648	1.00[EUR][1000 genomes]
rs2792650	1.00[TSI][hapmap]
rs2792651	1.00[EUR][1000 genomes]
rs2792653	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2792654	1.00[EUR][1000 genomes]
rs2792658	1.00[EUR][1000 genomes]
rs28878486	1.00[EUR][1000 genomes]
rs484196	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs494180	1.00[EUR][1000 genomes]
rs526232	1.00[EUR][1000 genomes]
rs553883	1.00[EUR][1000 genomes]
rs554826	1.00[EUR][1000 genomes]
rs56843634	1.00[EUR][1000 genomes]
rs58779855	1.00[EUR][1000 genomes]
rs59853271	1.00[EUR][1000 genomes]
rs603260	1.00[EUR][1000 genomes]
rs604566	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61111674	1.00[EUR][1000 genomes]
rs631431	1.00[EUR][1000 genomes]
rs6458981	1.00[EUR][1000 genomes]
rs667378	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6910818	1.00[EUR][1000 genomes]
rs695181	1.00[EUR][1000 genomes]
rs73741495	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2757169	chr6:53951857-54007349	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885886	chr6:53956877-54009067	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv885887	chr6:53961784-54046264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2829860	chr6:53985339-54005043	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs519777	CD3D	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53972800-53989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:53976800-53989200	Weak transcription	Left Ventricle	heart
3	chr6:53977600-53992400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:53980000-53989400	Weak transcription	Psoas Muscle	Psoas
5	chr6:53983000-53990200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:53983200-53989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:53986200-54000600	Weak transcription	HUVEC	blood vessel
8	chr6:53986400-54000000	Weak transcription	Fetal Heart	heart
9	chr6:53987000-53989400	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:53987600-53989800	Weak transcription	Liver	Liver
11	chr6:53988000-53990200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:53988600-53989400	Weak transcription	Right Ventricle	heart
13	chr6:53989000-53990200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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