Variant report

Variant	rs58116004
Chromosome Location	chr18:11955987-11955988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11954134..11957733-chr18:11976816..11981854,6	K562	blood:
2	chr18:11955876..11958355-chr18:11979083..11981244,2	MCF-7	breast:
3	chr18:11952790..11957780-chr18:11977949..11982684,7	K562	blood:

Variant related genes	Relation type
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1662602	0.81[ASN][1000 genomes]
rs28377581	0.82[ASN][1000 genomes]
rs28482939	0.83[ASN][1000 genomes]
rs28561563	0.80[ASN][1000 genomes]
rs2866438	0.82[EUR][1000 genomes]
rs28673951	0.80[ASN][1000 genomes]
rs4797605	0.82[ASN][1000 genomes]
rs585247	0.82[ASN][1000 genomes]
rs587243	0.81[EUR][1000 genomes]
rs619671	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62097454	0.83[EUR][1000 genomes]
rs62097455	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs663749	0.81[EUR][1000 genomes]
rs664217	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs665497	0.81[EUR][1000 genomes]
rs666427	0.81[EUR][1000 genomes]
rs694039	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8083728	0.82[ASN][1000 genomes]
rs8088851	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8098914	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	35 gene(s)	inside rSNPs	diseases
6	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS 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	34 gene(s)	inside rSNPs	diseases
11	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11949200-11957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:11951000-11956600	Enhancers	Placenta	Placenta
3	chr18:11952200-11962400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:11952200-11964000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:11954000-11956000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:11954400-11956000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:11954400-11956200	Enhancers	Fetal Muscle Leg	muscle
8	chr18:11954600-11956000	Enhancers	Brain Hippocampus Middle	brain
9	chr18:11954600-11956000	Enhancers	K562	blood
10	chr18:11954600-11958600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:11954800-11956000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr18:11954800-11956000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:11955000-11956000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:11955000-11956000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:11955000-11956000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:11955000-11956000	Enhancers	NHLF	lung
17	chr18:11955000-11956200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:11955000-11956200	Enhancers	Brain Germinal Matrix	brain
19	chr18:11955000-11956800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:11955000-11957200	Enhancers	HepG2	liver
21	chr18:11955200-11956000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:11955400-11956000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr18:11955400-11956000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:11955400-11956000	Enhancers	Fetal Stomach	stomach
25	chr18:11955400-11956000	Enhancers	Pancreas	Pancrea
26	chr18:11955400-11956000	Enhancers	HUVEC	blood vessel
27	chr18:11955600-11956000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:11955600-11956200	Enhancers	Hela-S3	cervix
29	chr18:11955600-11956400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:11955600-11956800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:11955800-11956000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr18:11955800-11956400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:11955800-11956800	Weak transcription	H1 Cell Line	embryonic stem cell

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