Variant report

Variant	rs7183817
Chromosome Location	chr15:54051253-54051254
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	chr15:54050503..54054059-chr15:54055807..54059339,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206641	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1107728	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107729	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107730	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11635018	0.83[TSI][hapmap]
rs11635066	0.81[CHB][hapmap]
rs12591101	0.81[CHB][hapmap]
rs2169344	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2414255	0.90[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap]
rs2470064	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4776171	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs527417	0.90[EUR][1000 genomes]
rs62005961	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62008001	0.85[AMR][1000 genomes]
rs690656	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7161786	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7162653	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164670	0.80[EUR][1000 genomes]
rs7167726	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7172509	0.91[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7183766	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183948	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8034536	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8035071	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs898736	0.84[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	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv9267	chr15:53821005-54132612	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv833010	chr15:53935652-54099849	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv949528	chr15:54041154-54281981	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7183817	FBN1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54050600-54052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:54050800-54051400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr15:54050800-54052200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr15:54050800-54052400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:54051000-54051400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr15:54051000-54051400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:54051000-54051400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:54051000-54051400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:54051000-54051800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:54051000-54051800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:54051000-54052200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr15:54051000-54052200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr15:54051000-54052200	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr15:54051000-54052400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr15:54051200-54051400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:54051200-54051400	Enhancers	Liver	Liver
17	chr15:54051200-54051400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr15:54051200-54051600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:54051200-54051600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:54051200-54051600	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr15:54051200-54051600	Enhancers	Pancreas	Pancrea
22	chr15:54051200-54051800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
23	chr15:54051200-54051800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:54051200-54051800	Active TSS	Duodenum Mucosa	Duodenum
25	chr15:54051200-54052000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:54051200-54052400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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