Variant report

Variant	rs73407719
Chromosome Location	chr18:12934798-12934799
allele	C/G
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	chr18:12743547..12744839-chr18:12934192..12935152,4	MCF-7	breast:
2	chr18:12744227..12744814-chr18:12934130..12935168,6	K562	blood:
3	chr18:12685747..12686650-chr18:12934519..12935030,2	MCF-7	breast:
4	chr18:12890407..12891071-chr18:12934274..12935181,2	MCF-7	breast:
5	chr18:12740652..12742323-chr18:12932968..12935148,2	MCF-7	breast:
6	chr18:12726953..12727699-chr18:12934094..12935046,3	MCF-7	breast:
7	chr18:12743899..12744821-chr18:12934195..12935067,5	MCF-7	breast:
8	chr18:12726635..12727970-chr18:12934143..12935576,12	K562	blood:
9	chr18:12933753..12935419-chr18:12939414..12941340,2	K562	blood:
10	chr18:12795924..12798139-chr18:12932916..12934960,2	K562	blood:
11	chr18:12737957..12738483-chr18:12934210..12934922,2	MCF-7	breast:

No data

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs478502	1.00[EUR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs547479	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs73419545	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12929000-12935400	Enhancers	HepG2	liver
2	chr18:12932200-12935200	Enhancers	Fetal Thymus	thymus
3	chr18:12933200-12935400	Enhancers	Thymus	Thymus
4	chr18:12933600-12937600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12934000-12935000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:12934200-12934800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr18:12934400-12934800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr18:12934400-12934800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr18:12934400-12934800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:12934400-12934800	Enhancers	Fetal Muscle Trunk	muscle
11	chr18:12934400-12934800	Enhancers	Placenta	Placenta
12	chr18:12934400-12934800	Enhancers	NH-A	brain
13	chr18:12934400-12934800	Flanking Active TSS	Osteobl	bone
14	chr18:12934400-12935000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:12934400-12935000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:12934400-12935000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:12934400-12935000	Enhancers	Fetal Heart	heart
18	chr18:12934400-12935000	Enhancers	A549	lung
19	chr18:12934400-12935000	Enhancers	GM12878-XiMat	blood
20	chr18:12934400-12935000	Enhancers	HMEC	breast
21	chr18:12934400-12935200	Enhancers	Dnd41	blood
22	chr18:12934400-12935200	Enhancers	NHEK	skin
23	chr18:12934600-12934800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr18:12934600-12934800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr18:12934600-12934800	Active TSS	NHDF-Ad	bronchial
26	chr18:12934600-12935000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:12934600-12935000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:12934600-12935000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:12934600-12935000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr18:12934600-12935000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr18:12934600-12935000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr18:12934600-12935000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr18:12934600-12935000	Enhancers	Adipose Nuclei	Adipose
34	chr18:12934600-12935000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr18:12934600-12935000	Enhancers	Stomach Mucosa	stomach
36	chr18:12934600-12935000	Enhancers	Stomach Smooth Muscle	stomach
37	chr18:12934600-12935000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr18:12934600-12935200	Enhancers	Hela-S3	cervix
39	chr18:12934600-12935200	Enhancers	HSMMtube	muscle
40	chr18:12934600-12935800	Enhancers	HSMM	muscle

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