Variant report

Variant	rs4775921
Chromosome Location	chr15:51447497-51447498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51438572..51441417-chr15:51446011..51448604,2	MCF-7	breast:
2	chr15:51427978..51430626-chr15:51444656..51447601,2	MCF-7	breast:
3	chr15:51446569..51449357-chr15:51451658..51454423,2	MCF-7	breast:
4	chr15:51442101..51444866-chr15:51446824..51449455,3	MCF-7	breast:
5	chr15:51435427..51438246-chr15:51447177..51449125,2	MCF-7	breast:
6	chr15:51443625..51445908-chr15:51445928..51448871,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10450980	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10468002	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10519289	0.81[JPT][hapmap]
rs1075680	0.88[JPT][hapmap]
rs11070825	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11632372	0.90[ASN][1000 genomes]
rs11634895	0.81[JPT][hapmap]
rs11636974	0.81[JPT][hapmap]
rs11855242	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857981	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs12899586	0.81[JPT][hapmap]
rs12904155	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs12906205	0.81[ASN][1000 genomes]
rs12907367	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs1438926	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs16953045	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs16964048	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16964077	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16964113	0.87[ASN][1000 genomes]
rs17522553	0.86[ASN][1000 genomes]
rs1904432	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2083254	0.81[ASN][1000 genomes]
rs2278559	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.80[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28835954	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34874493	0.82[ASN][1000 genomes]
rs35114758	0.84[ASN][1000 genomes]
rs35134521	0.81[ASN][1000 genomes]
rs3825799	0.81[JPT][hapmap]
rs55705440	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55972942	0.94[ASN][1000 genomes]
rs56039974	0.87[ASN][1000 genomes]
rs56098136	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56345002	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56991682	0.86[ASN][1000 genomes]
rs58099273	0.87[ASN][1000 genomes]
rs59625951	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60281978	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6493470	0.81[JPT][hapmap]
rs7170009	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7175024	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs7178516	0.95[ASN][1000 genomes]
rs7179084	0.95[ASN][1000 genomes]
rs74013148	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74013153	0.90[ASN][1000 genomes]
rs745258	0.94[JPT][hapmap]
rs8026140	0.81[JPT][hapmap]
rs8028561	0.95[ASN][1000 genomes]
rs8040954	0.82[JPT][hapmap]

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	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4775921	DUOXA2	cis	cerebellum	SCAN
rs4775921	AP4E1	cis	multi-tissue	Pritchard
rs4775921	LEO1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51443200-51456200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:51444400-51448600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr15:51445400-51452000	Weak transcription	Brain Substantia Nigra	brain
4	chr15:51445600-51448000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:51446000-51447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:51446800-51448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:51446800-51448400	Enhancers	HMEC	breast
8	chr15:51446800-51449000	Enhancers	Fetal Muscle Leg	muscle
9	chr15:51447000-51449000	Enhancers	HSMMtube	muscle
10	chr15:51447200-51448200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:51447200-51448400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:51447200-51448400	Enhancers	HUVEC	blood vessel
13	chr15:51447200-51448800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr15:51447200-51448800	Enhancers	HSMM	muscle
15	chr15:51447200-51449000	Enhancers	Spleen	Spleen
16	chr15:51447400-51447600	Enhancers	HepG2	liver
17	chr15:51447400-51447800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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