Variant report

Variant	rs73244920
Chromosome Location	chr5:118756058-118756059
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	chr5:118754174..118756633-chr5:118758402..118759986,2	MCF-7	breast:
2	chr5:118603215..118605720-chr5:118754635..118756360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10072515	0.95[AMR][1000 genomes]
rs10214151	0.95[AMR][1000 genomes]
rs11948223	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11951264	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12656474	0.95[AMR][1000 genomes]
rs12657181	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57961136	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58359191	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59644927	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61553637	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6876193	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7709833	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7721314	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118752600-118756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:118753200-118756800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:118753200-118757200	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:118753400-118756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:118753400-118756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:118753800-118756800	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:118753800-118758400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:118754200-118756200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:118754400-118756800	Enhancers	Placenta	Placenta
11	chr5:118754400-118757200	Enhancers	Primary B cells from cord blood	blood
12	chr5:118754400-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:118754400-118758200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:118754800-118758000	Weak transcription	NHEK	skin
15	chr5:118754800-118758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:118754800-118762200	Weak transcription	K562	blood
17	chr5:118755000-118759400	Enhancers	Liver	Liver
18	chr5:118755200-118757200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:118755400-118756400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:118755400-118756400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:118755400-118756400	Enhancers	Esophagus	oesophagus
22	chr5:118755600-118756400	Enhancers	Adipose Nuclei	Adipose
23	chr5:118755800-118756200	Enhancers	Stomach Mucosa	stomach
24	chr5:118755800-118756400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:118756000-118756200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:118756000-118756400	Enhancers	HepG2	liver
27	chr5:118756000-118756400	Enhancers	HMEC	breast

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