Variant report

Variant	rs1485377
Chromosome Location	chr6:80173723-80173724
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	chr6:79786335..79788138-chr6:80172586..80175202,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146247	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1158770	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs1158771	0.91[EUR][1000 genomes]
rs1385536	0.80[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1385537	0.81[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1485370	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs1485372	0.90[EUR][1000 genomes]
rs16890774	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs16890805	1.00[CHD][hapmap]
rs16890832	1.00[CHD][hapmap]
rs16890833	1.00[CHD][hapmap]
rs17727505	0.81[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs196700	0.80[AFR][1000 genomes]
rs1992065	0.83[AFR][1000 genomes]
rs2437702	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2575204	0.91[EUR][1000 genomes]
rs2575208	0.80[EUR][1000 genomes]
rs2575213	0.89[AFR][1000 genomes]
rs2629472	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2629473	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2655666	0.83[EUR][1000 genomes]
rs2655677	0.80[EUR][1000 genomes]
rs2655680	0.80[EUR][1000 genomes]
rs2803188	0.81[EUR][1000 genomes]
rs41269343	0.80[EUR][1000 genomes]
rs62411324	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62411332	0.80[EUR][1000 genomes]
rs6907133	0.88[MEX][hapmap];0.86[TSI][hapmap]
rs7745429	0.88[MEX][hapmap];0.88[TSI][hapmap]
rs7767034	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs992872	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80171200-80176200	Weak transcription	Adipose Nuclei	Adipose
2	chr6:80171200-80220000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:80171600-80175800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:80171600-80226600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:80173200-80174000	Enhancers	NHEK	skin
6	chr6:80173200-80174200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:80173200-80174200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:80173200-80174200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:80173200-80174400	Enhancers	HMEC	breast
10	chr6:80173200-80175400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:80173200-80175800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:80173200-80175800	Enhancers	Hela-S3	cervix
13	chr6:80173200-80179600	Enhancers	HepG2	liver
14	chr6:80173400-80173800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:80173400-80173800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:80173400-80173800	Enhancers	HUVEC	blood vessel
17	chr6:80173400-80174000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:80173400-80175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:80173600-80173800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:80173600-80174200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:80173600-80174400	Enhancers	Fetal Intestine Large	intestine
22	chr6:80173600-80177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:80173600-80177400	Weak transcription	Placenta	Placenta

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