Variant report

Variant	rs62264167
Chromosome Location	chr3:112866217-112866218
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	chr3:112865633..112868819-chr3:112877200..112880555,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16860564	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860599	0.88[ASN][1000 genomes]
rs1881941	0.81[ASN][1000 genomes]
rs1881945	0.91[ASN][1000 genomes]
rs1920079	0.93[ASN][1000 genomes]
rs1920081	0.88[ASN][1000 genomes]
rs28671320	0.88[ASN][1000 genomes]
rs55705442	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73223921	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7619876	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630958	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9822730	0.90[ASN][1000 genomes]
rs9824380	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830821	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112852800-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:112855000-112866800	Weak transcription	Pancreas	Pancrea
4	chr3:112858600-112867400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:112862600-112866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:112862600-112866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:112862600-112866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:112862800-112866400	Weak transcription	NHEK	skin
9	chr3:112862800-112866800	Weak transcription	HMEC	breast
10	chr3:112863000-112866400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:112863200-112866800	Weak transcription	Esophagus	oesophagus
12	chr3:112863400-112870600	Weak transcription	Left Ventricle	heart
13	chr3:112864400-112866800	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:112864600-112867600	Enhancers	Colon Smooth Muscle	Colon
15	chr3:112865200-112866400	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:112865200-112866600	Weak transcription	Fetal Kidney	kidney
17	chr3:112865200-112866800	Weak transcription	Ovary	ovary
18	chr3:112865200-112867000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:112865200-112871400	Enhancers	Fetal Stomach	stomach
20	chr3:112865400-112866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:112865400-112867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:112865400-112867600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:112865600-112866600	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:112865600-112870000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:112865600-112870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:112865800-112867200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:112865800-112870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:112866000-112867000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr3:112866000-112868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:112866200-112866800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:112866200-112868200	Enhancers	HUES64 Cell Line	embryonic stem cell

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