Variant report

Variant	rs17519488
Chromosome Location	chr18:11947326-11947327
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11942200..11944403-chr18:11945957..11947615,2	K562	blood:
2	chr18:11945871..11949775-chr18:11972448..11976477,3	K562	blood:
3	chr18:11944456..11952400-chr18:11978684..11982486,15	K562	blood:
4	chr18:11938000..11939656-chr18:11946087..11948724,2	K562	blood:
5	chr18:11943801..11947480-chr18:11981525..11984599,3	MCF-7	breast:
6	chr18:11945775..11953098-chr18:11977697..11982837,16	K562	blood:
7	chr18:11927997..11930119-chr18:11947025..11949213,2	K562	blood:
8	chr18:11946068..11950381-chr18:11979395..11982010,5	MCF-7	breast:
9	chr18:11947089..11947879-chr19:797034..797866,2	Hela-S3	cervix:
10	chr18:11947304..11948125-chr18:11981391..11982015,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000267661	Chromatin interaction
ENSG00000011304	Chromatin interaction
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11660196	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11660354	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11661869	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12956610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71350474	0.90[EUR][1000 genomes]
rs71350475	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71350479	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9960951	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11941600-11947400	Enhancers	Placenta	Placenta
2	chr18:11943800-11947600	Weak transcription	Gastric	stomach
3	chr18:11946000-11947400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:11946000-11947400	Enhancers	Pancreas	Pancrea
5	chr18:11946000-11947800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:11946200-11947400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:11946200-11947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:11946200-11947400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr18:11946200-11947400	Weak transcription	Lung	lung
10	chr18:11946200-11947600	Enhancers	Stomach Mucosa	stomach
11	chr18:11946200-11948400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr18:11946600-11947400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:11946600-11948000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:11946600-11948000	Enhancers	HMEC	breast
15	chr18:11946600-11948200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:11946600-11948200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr18:11946600-11948200	Flanking Active TSS	Osteobl	bone
18	chr18:11946600-11948400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:11946800-11947400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:11946800-11947400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:11946800-11947400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr18:11946800-11947800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr18:11946800-11947800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr18:11946800-11947800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr18:11946800-11947800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr18:11946800-11947800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr18:11946800-11947800	Flanking Active TSS	HSMMtube	muscle
28	chr18:11946800-11947800	Flanking Active TSS	NH-A	brain
29	chr18:11946800-11948000	Active TSS	Brain Angular Gyrus	brain
30	chr18:11946800-11948000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr18:11946800-11948000	Active TSS	Psoas Muscle	Psoas
32	chr18:11946800-11948200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr18:11946800-11948200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:11946800-11948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:11946800-11948200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:11946800-11948200	Active TSS	Ovary	ovary
37	chr18:11946800-11948400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr18:11946800-11948400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:11947000-11947400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:11947000-11947400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:11947000-11947400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr18:11947000-11947400	Flanking Active TSS	Fetal Brain Female	brain
43	chr18:11947000-11947400	Flanking Active TSS	Fetal Stomach	stomach
44	chr18:11947000-11947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:11947000-11947400	Weak transcription	Small Intestine	intestine
46	chr18:11947000-11947400	Active TSS	HepG2	liver
47	chr18:11947000-11947600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr18:11947000-11947600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:11947000-11947600	Active TSS	Fetal Lung	lung
50	chr18:11947000-11947600	Active TSS	GM12878-XiMat	blood

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