Variant report

Variant	rs3763191
Chromosome Location	chr6:45537675-45537676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45533105..45535281-chr6:45537536..45540429,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1041334	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10807322	0.86[ASN][1000 genomes]
rs12192817	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12201995	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12202314	0.86[ASN][1000 genomes]
rs12204264	0.87[ASN][1000 genomes]
rs12664797	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200687	0.80[CEU][hapmap]
rs16873510	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1928529	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1928530	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1928531	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1928532	0.86[ASN][1000 genomes]
rs35611098	0.87[EUR][1000 genomes]
rs68057028	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6913882	0.87[ASN][1000 genomes]
rs6914235	0.87[ASN][1000 genomes]
rs6938214	0.97[EUR][1000 genomes]
rs6938450	0.87[CHB][hapmap]
rs6941748	0.80[CEU][hapmap]
rs7752324	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758107	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758317	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9463100	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv603009	chr6:45530471-45543530	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv462940	chr6:45532214-45545975	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv603010	chr6:45532214-45545975	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3763191	C6orf138	cis	parietal	SCAN
rs3763191	YIPF3	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45534200-45537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:45534200-45538000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:45534400-45538000	Enhancers	HMEC	breast
4	chr6:45534600-45537800	Enhancers	NHEK	skin
5	chr6:45535400-45539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:45536000-45538000	Enhancers	Dnd41	blood
7	chr6:45536600-45537800	Enhancers	NHDF-Ad	bronchial
8	chr6:45537000-45538000	Enhancers	Ovary	ovary
9	chr6:45537000-45539200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:45537000-45540200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:45537200-45537800	Enhancers	Brain Hippocampus Middle	brain
12	chr6:45537200-45537800	Enhancers	Brain Substantia Nigra	brain
13	chr6:45537200-45540200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:45537200-45542000	Weak transcription	Fetal Thymus	thymus
15	chr6:45537400-45540600	Weak transcription	Esophagus	oesophagus
16	chr6:45537400-45544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:45537400-45559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:45537600-45538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:45537600-45542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:45537600-45544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:45537600-45544600	Weak transcription	Left Ventricle	heart
22	chr6:45537600-45544600	Weak transcription	Lung	lung
23	chr6:45537600-45545200	Weak transcription	NH-A	brain
24	chr6:45537600-45546000	Weak transcription	Right Atrium	heart

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