Variant report

Variant	rs1690671
Chromosome Location	chr6:118674983-118674984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1321985	0.81[EUR][1000 genomes]
rs1413629	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1413630	0.84[EUR][1000 genomes]
rs1413631	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1614226	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1622849	0.84[EUR][1000 genomes]
rs1626650	0.88[EUR][1000 genomes]
rs1630880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1690648	0.86[EUR][1000 genomes]
rs1690650	0.86[EUR][1000 genomes]
rs1690652	0.88[EUR][1000 genomes]
rs1690653	0.88[EUR][1000 genomes]
rs1690654	0.84[EUR][1000 genomes]
rs1690655	0.84[EUR][1000 genomes]
rs1690656	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1690657	0.84[EUR][1000 genomes]
rs1690658	0.81[EUR][1000 genomes]
rs1690666	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1690667	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs1690669	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1690670	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1743242	0.88[EUR][1000 genomes]
rs1743244	0.84[EUR][1000 genomes]
rs1743245	0.88[EUR][1000 genomes]
rs1743247	0.88[EUR][1000 genomes]
rs1743248	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1743249	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1743250	0.88[EUR][1000 genomes]
rs1743251	0.88[EUR][1000 genomes]
rs1743252	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1743254	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1743256	0.88[EUR][1000 genomes]
rs1743257	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs1743261	0.89[EUR][1000 genomes]
rs1761617	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1761620	0.81[EUR][1000 genomes]
rs1761622	0.81[EUR][1000 genomes]
rs1761624	0.88[EUR][1000 genomes]
rs1761625	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1761628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1761629	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1761630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483916	0.88[EUR][1000 genomes]
rs2483917	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2483918	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2501472	0.88[EUR][1000 genomes]
rs3734345	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs937275	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs937276	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118673000-118677200	Weak transcription	NHLF	lung
2	chr6:118674400-118677600	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:118674600-118675000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:118674600-118675400	Enhancers	Left Ventricle	heart
5	chr6:118674600-118675400	Enhancers	Right Atrium	heart
6	chr6:118674600-118676800	Enhancers	Colon Smooth Muscle	Colon
7	chr6:118674800-118675000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr6:118674800-118677200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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