Variant report

Variant	rs7186068
Chromosome Location	chr16:80611798-80611799
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	chr16:80611783..80614483-chr16:80638883..80641243,2	MCF-7	breast:
2	chr16:80598399..80600334-chr16:80611108..80613463,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11866835	0.92[EUR][1000 genomes]
rs12443848	0.80[GIH][hapmap]
rs12444563	0.85[GIH][hapmap]
rs12445526	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13330766	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13335321	0.80[EUR][1000 genomes]
rs4534859	0.95[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60897798	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194176	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7199198	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7199965	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7204803	0.94[EUR][1000 genomes]
rs7205206	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8049444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8063211	0.90[EUR][1000 genomes]
rs9930879	0.83[EUR][1000 genomes]
rs9935465	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs9937215	0.80[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription 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
2	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	esv3356733	chr16:80608151-80612849	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7186068	TERF2IP	cis	parietal	SCAN
rs7186068	MON1B	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80611200-80612000	Enhancers	Gastric	stomach
2	chr16:80611200-80612400	Enhancers	Liver	Liver
3	chr16:80611200-80612400	Enhancers	Duodenum Mucosa	Duodenum
4	chr16:80611200-80612400	Enhancers	Fetal Intestine Small	intestine
5	chr16:80611200-80612400	Enhancers	Pancreas	Pancrea
6	chr16:80611400-80612000	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr16:80611400-80612000	Enhancers	Fetal Intestine Large	intestine
8	chr16:80611400-80612000	Enhancers	Stomach Mucosa	stomach
9	chr16:80611600-80612000	Enhancers	HepG2	liver
10	chr16:80611600-80612200	Enhancers	Small Intestine	intestine
11	chr16:80611600-80614000	Enhancers	Primary T helper cells PMA-I stimulated	--

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