Variant report

Variant	rs12646555
Chromosome Location	chr4:124486193-124486194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124430557..124431288-chr4:124486036..124486567,2	MCF-7	breast:
2	chr12:33531068..33531588-chr4:124485616..124486233,2	MCF-7	breast:
3	chr4:124485427..124486524-chr4:124580578..124581744,8	MCF-7	breast:
4	chr4:124485760..124486587-chr4:124509536..124510099,2	MCF-7	breast:
5	chr4:124485623..124486524-chr4:124581998..124582924,2	MCF-7	breast:
6	chr4:124485658..124486578-chr4:124582431..124582959,2	K562	blood:
7	chr4:124023944..124025068-chr4:124485664..124486555,3	MCF-7	breast:
8	chr4:124318897..124319845-chr4:124485723..124486558,2	MCF-7	breast:
9	chr4:124476843..124477399-chr4:124485940..124486580,2	MCF-7	breast:
10	chr4:124311780..124312441-chr4:124485398..124486381,2	MCF-7	breast:
11	chr4:124486074..124486592-chr4:125032707..125033420,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164056	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12643847	1.00[ASN][1000 genomes]
rs12644121	1.00[ASN][1000 genomes]
rs12644228	1.00[ASN][1000 genomes]
rs12644620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17006935	1.00[EUR][1000 genomes]
rs17007024	0.80[ASN][1000 genomes]
rs17007051	0.93[ASN][1000 genomes]
rs28827850	1.00[ASN][1000 genomes]
rs57111794	1.00[ASN][1000 genomes]
rs57235450	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57904792	0.89[ASN][1000 genomes]
rs57940178	0.93[ASN][1000 genomes]
rs58280008	1.00[ASN][1000 genomes]
rs58535348	0.85[ASN][1000 genomes]
rs59621223	0.89[ASN][1000 genomes]
rs59791195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60096196	0.96[ASN][1000 genomes]
rs60289595	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60795072	0.96[ASN][1000 genomes]
rs6534417	1.00[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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:124477200-124486800	Weak transcription	Right Atrium	heart
2	chr4:124484400-124486400	Enhancers	Ovary	ovary
3	chr4:124484400-124486600	Enhancers	HepG2	liver
4	chr4:124484600-124486400	Enhancers	Fetal Intestine Small	intestine
5	chr4:124484600-124495000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:124485000-124486400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:124485000-124486600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:124485000-124486600	Enhancers	Stomach Mucosa	stomach
9	chr4:124485200-124486400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:124485200-124486600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:124485200-124486600	Enhancers	Fetal Heart	heart
12	chr4:124485200-124486600	Enhancers	Fetal Intestine Large	intestine
13	chr4:124485800-124486200	Enhancers	Primary B cells from cord blood	blood
14	chr4:124485800-124486400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:124485800-124486400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:124485800-124486400	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:124485800-124486400	Enhancers	Adipose Nuclei	Adipose
18	chr4:124485800-124486400	Enhancers	Liver	Liver
19	chr4:124485800-124486400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:124485800-124486400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr4:124486000-124486200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:124486000-124486400	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:124486000-124486600	Enhancers	K562	blood

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