Variant report

Variant	rs7405418
Chromosome Location	chr16:31027267-31027268
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	chr16:31025052..31029776-chr16:31034018..31036792,4	K562	blood:
2	chr16:30996388..30997033-chr16:31027108..31028060,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099377	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10153181	1.00[EUR][1000 genomes]
rs11150605	1.00[EUR][1000 genomes]
rs11649138	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11865829	1.00[EUR][1000 genomes]
rs1549300	1.00[EUR][1000 genomes]
rs17878338	1.00[EUR][1000 genomes]
rs17878521	1.00[EUR][1000 genomes]
rs17883591	1.00[EUR][1000 genomes]
rs17886199	1.00[EUR][1000 genomes]
rs2032917	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4435271	1.00[EUR][1000 genomes]
rs4889515	1.00[EUR][1000 genomes]
rs4889529	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889531	1.00[EUR][1000 genomes]
rs4889532	1.00[EUR][1000 genomes]
rs4889533	1.00[EUR][1000 genomes]
rs4889535	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889613	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4889615	1.00[EUR][1000 genomes]
rs59645185	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs61747561	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs6565215	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6565218	1.00[EUR][1000 genomes]
rs7184697	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194921	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs7499974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045936	1.00[EUR][1000 genomes]
rs8056076	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057433	1.00[EUR][1000 genomes]
rs889550	1.00[EUR][1000 genomes]
rs889553	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9924071	1.00[EUR][1000 genomes]
rs9925932	1.00[EUR][1000 genomes]
rs9926903	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
2	chr16:31018000-31027400	Weak transcription	A549	lung
3	chr16:31026400-31027400	Enhancers	HepG2	liver
4	chr16:31026600-31027800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:31026800-31027600	Enhancers	Spleen	Spleen
6	chr16:31027200-31027600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:31027200-31027800	Enhancers	Pancreas	Pancrea

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