Variant report

Variant	rs1413631
Chromosome Location	chr6:118655381-118655382
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	chr6:118649795..118651737-chr6:118653045..118655743,2	K562	blood:
2	chr6:118652792..118655775-chr6:118673226..118674884,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10484289	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10499086	1.00[CHB][hapmap]
rs12333080	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1319987	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1319988	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1413629	0.85[EUR][1000 genomes]
rs1413630	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1614226	0.85[EUR][1000 genomes]
rs1622849	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1626650	0.86[EUR][1000 genomes]
rs1630266	1.00[CHB][hapmap]
rs1630880	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1690648	0.84[EUR][1000 genomes]
rs1690650	0.84[EUR][1000 genomes]
rs1690652	0.86[EUR][1000 genomes]
rs1690653	0.86[EUR][1000 genomes]
rs1690654	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1690655	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1690656	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1690657	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1690664	1.00[CHB][hapmap]
rs1690666	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1690667	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs1690669	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1690670	0.85[EUR][1000 genomes]
rs1690671	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17079881	1.00[CHB][hapmap]
rs17080292	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs17080302	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs17422275	1.00[CHB][hapmap]
rs1743242	0.86[EUR][1000 genomes]
rs1743244	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1743245	0.86[EUR][1000 genomes]
rs1743247	0.86[EUR][1000 genomes]
rs1743248	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1743249	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1743250	0.86[EUR][1000 genomes]
rs1743251	0.86[EUR][1000 genomes]
rs1743252	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1743254	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1743256	0.86[EUR][1000 genomes]
rs1743257	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.85[TSI][hapmap]
rs1743258	1.00[CHB][hapmap]
rs1743259	1.00[CHB][hapmap]
rs1743261	0.85[EUR][1000 genomes]
rs1761617	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1761624	0.86[EUR][1000 genomes]
rs1761625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1761628	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1761629	0.95[EUR][1000 genomes]
rs1761630	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1889468	1.00[CHB][hapmap]
rs2483916	0.86[EUR][1000 genomes]
rs2483917	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483918	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501472	0.86[EUR][1000 genomes]
rs25422	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs3734345	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs3851206	1.00[CHB][hapmap]
rs3901856	1.00[CHB][hapmap]
rs3904613	1.00[CHB][hapmap]
rs6924560	1.00[CHB][hapmap]
rs724868	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7453860	1.00[CHB][hapmap]
rs937275	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs937276	0.95[EUR][1000 genomes]
rs9481821	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs9489407	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs9489409	0.82[CHB][hapmap];0.82[JPT][hapmap]

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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118649000-118656200	Weak transcription	Aorta	Aorta
2	chr6:118649000-118656600	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:118650000-118656600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:118653200-118656200	Weak transcription	Psoas Muscle	Psoas
5	chr6:118654200-118656000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr6:118654200-118656200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:118655000-118656000	Weak transcription	HSMMtube	muscle
8	chr6:118655000-118657400	Enhancers	Rectal Smooth Muscle	rectum
9	chr6:118655200-118656200	Enhancers	Fetal Heart	heart

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