Variant report

Variant	rs59179192
Chromosome Location	chr17:18083954-18083955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18083923-18084034	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
2	chr17:18082833..18084800-chr17:18226909..18229602,2	K562	blood:
3	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
4	chr17:18081827..18084757-chr17:18084813..18086501,3	MCF-7	breast:
5	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

No data

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000091542	Chromatin interaction
ENSG00000267350	Chromatin interaction
ENSG00000091536	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1064629	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12449609	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12450483	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2056841	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2072652	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2072653	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2075659	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2242595	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272571	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4925145	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925147	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57186648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58804619	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068517	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
2	chr17:18062200-18085000	Weak transcription	Right Atrium	heart
3	chr17:18064800-18085400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:18071200-18084800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:18072400-18085400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:18072800-18085000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:18075600-18085400	Weak transcription	Brain Germinal Matrix	brain
8	chr17:18075800-18084400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:18075800-18085200	Weak transcription	Right Ventricle	heart
10	chr17:18076000-18085400	Weak transcription	Esophagus	oesophagus
11	chr17:18076000-18086000	Weak transcription	Ovary	ovary
12	chr17:18076200-18084600	Weak transcription	Fetal Stomach	stomach
13	chr17:18076600-18085000	Weak transcription	Pancreas	Pancrea
14	chr17:18076800-18084400	Weak transcription	Fetal Muscle Leg	muscle
15	chr17:18077400-18085400	Weak transcription	Spleen	Spleen
16	chr17:18077800-18085200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:18079200-18084400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:18079200-18085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:18079400-18085000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:18079800-18084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:18079800-18084400	Weak transcription	GM12878-XiMat	blood
22	chr17:18079800-18085200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:18080000-18085400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr17:18080200-18085400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr17:18080200-18085400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr17:18080200-18085400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:18080400-18084600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:18080400-18085400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr17:18081200-18084800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:18081400-18085400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:18081400-18085400	Weak transcription	Brain Substantia Nigra	brain
32	chr17:18082200-18084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:18082600-18084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:18082600-18085400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:18082600-18085400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:18082800-18084800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr17:18082800-18085000	Weak transcription	Gastric	stomach
38	chr17:18082800-18085200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:18082800-18085200	Weak transcription	Fetal Intestine Small	intestine
40	chr17:18082800-18085400	Weak transcription	Colonic Mucosa	Colon
41	chr17:18083000-18084600	Weak transcription	HepG2	liver
42	chr17:18083000-18085400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:18083000-18085400	Enhancers	Osteobl	bone
44	chr17:18083200-18084800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:18083200-18085200	Weak transcription	Fetal Intestine Large	intestine
46	chr17:18083200-18085600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:18083200-18085600	Weak transcription	HSMMtube	muscle
48	chr17:18083400-18085200	Weak transcription	Stomach Mucosa	stomach
49	chr17:18083400-18085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:18083400-18085400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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