Variant report

Variant	rs1342867
Chromosome Location	chr1:241963716-241963717
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241960991..241963195-chr1:241963373..241965467,2	K562	blood:
2	chr1:241961688..241963195-chr1:241963373..241965136,2	K562	blood:
3	chr1:241962861..241964655-chr1:241997833..242000502,2	MCF-7	breast:
4	chr1:241802401..241805334-chr1:241963046..241967085,4	MCF-7	breast:
5	chr1:241961947..241964736-chr1:241977926..241980630,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054277	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10047251	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10926568	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926570	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926572	0.94[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926574	0.86[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587777	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589447	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058955	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060174	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068835	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074374	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075350	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs12080931	1.00[ASN][1000 genomes]
rs12082827	1.00[ASN][1000 genomes]
rs12088589	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088920	1.00[CHB][hapmap]
rs12091522	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091633	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12092046	1.00[ASN][1000 genomes]
rs12094877	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095445	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13375851	1.00[ASN][1000 genomes]
rs13375852	1.00[ASN][1000 genomes]
rs13375989	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1635523	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129119	1.00[ASN][1000 genomes]
rs4658798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145959	1.00[ASN][1000 genomes]
rs57034241	1.00[ASN][1000 genomes]
rs57776943	1.00[ASN][1000 genomes]
rs58903593	1.00[ASN][1000 genomes]
rs61825849	1.00[ASN][1000 genomes]
rs61827077	1.00[ASN][1000 genomes]
rs61827078	1.00[ASN][1000 genomes]
rs61827080	1.00[ASN][1000 genomes]
rs61827081	1.00[ASN][1000 genomes]
rs61827082	1.00[ASN][1000 genomes]
rs61827083	1.00[ASN][1000 genomes]
rs61827089	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827118	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827120	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827121	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827122	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429298	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs6429299	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6429302	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6429308	0.85[EUR][1000 genomes]
rs6429309	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429310	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429311	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660576	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660686	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663895	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6665240	1.00[ASN][1000 genomes]
rs6667348	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667772	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669947	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670605	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6671725	1.00[ASN][1000 genomes]
rs6675602	1.00[ASN][1000 genomes]
rs6678028	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685969	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs6690241	1.00[ASN][1000 genomes]
rs6694094	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6698158	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703922	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72770245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72770248	1.00[ASN][1000 genomes]
rs7514880	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524386	1.00[CEU][hapmap]
rs7526450	1.00[CEU][hapmap]
rs7533124	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7533422	1.00[ASN][1000 genomes]
rs7535614	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540780	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552731	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7554579	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7554877	1.00[ASN][1000 genomes]
rs851777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866455	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428522	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428523	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428526	1.00[CEU][hapmap]
rs9428890	1.00[CHB][hapmap]
rs9428896	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241962600-241966400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:241963400-241964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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