Variant report

Variant	rs6601075
Chromosome Location	chr5:177138298-177138299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6866477	0.92[EUR][1000 genomes]
rs7720519	0.83[CHD][hapmap]
rs7729422	0.85[CHD][hapmap]
rs7731640	0.85[CHD][hapmap]

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	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv2762570	chr5:177101771-177138875	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1812144	chr5:177120697-177138298	Enhancers Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv519647	chr5:177120697-177260129	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv968279	chr5:177125153-177160021	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2763927	chr5:177132443-177260330	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1851643	chr5:177133426-177145919	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv33718	chr5:177136260-177168505	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6601075	FAM153A	cis	Esophagus Mucosa	GTEx
rs6601075	FAM153C	cis	lymphoblastoid	seeQTL
rs6601075	FAM153A	cis	Heart Left Ventricle	GTEx
rs6601075	RP11-1026M7.2	cis	Heart Left Ventricle	GTEx
rs6601075	FAM153A	cis	lymphoblastoid	seeQTL
rs6601075	FAM153A	cis	Thyroid	GTEx
rs6601075	FAM153A	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177137400-177142000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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