Variant report

Variant	rs3134103
Chromosome Location	chr8:110095212-110095213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:110094593-110095293	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr8:110094531-110095317	ECC-1	luminal epithelium:	n/a	n/a
3	FOSL2	chr8:110094762-110095226	A549	lung:	n/a	n/a
4	RAD21	chr8:110094657-110095217	ECC-1	luminal epithelium:	n/a	n/a
5	FOXA1	chr8:110094715-110095213	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr8:110094421-110095279	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr8:110094599-110095302	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr8:110094546-110095300	ECC-1	luminal epithelium:	n/a	n/a
9	MYC	chr8:110094790-110095212	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr8:110094723-110095239	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr8:110094550-110095287	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr8:110094427-110095381	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr8:110094508-110095245	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr8:110094643-110095236	ECC-1	luminal epithelium:	n/a	n/a
15	FOS	chr8:110094752-110095745	MCF10A-Er-Src	breast:	n/a	chr8:110095609-110095619 chr8:110095609-110095619 chr8:110095606-110095617 chr8:110095609-110095619
16	FOXM1	chr8:110094513-110095416	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
TRHR	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10955504	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3110037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110038	0.80[ASN][1000 genomes]
rs3110039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3110040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110041	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110046	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3110048	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3110049	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3110050	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3110051	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110053	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3110054	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3110055	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110056	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110057	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110058	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134099	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134100	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134101	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134105	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3134115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022273	chr8:110026712-110146600	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv539715	chr8:110026712-110146600	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891271	chr8:110054427-110101683	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3134103	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110094400-110095600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:110094600-110095800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:110094600-110095800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:110094600-110096000	Enhancers	HSMM	muscle
5	chr8:110094600-110096000	Enhancers	NH-A	brain
6	chr8:110094600-110096200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:110094800-110095800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:110094800-110096000	Enhancers	Osteobl	bone

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