Variant report

Variant	rs59280133
Chromosome Location	chr18:8389239-8389240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8385804..8387382-chr18:8388328..8389865,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16953398	1.00[EUR][1000 genomes]
rs16953436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155754	1.00[EUR][1000 genomes]
rs56833614	1.00[EUR][1000 genomes]
rs641358	1.00[EUR][1000 genomes]
rs6506581	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7231964	1.00[EUR][1000 genomes]
rs7232155	1.00[EUR][1000 genomes]
rs73384215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384258	1.00[EUR][1000 genomes]
rs73384260	1.00[EUR][1000 genomes]
rs73384266	1.00[EUR][1000 genomes]
rs73384296	1.00[EUR][1000 genomes]
rs73939447	1.00[EUR][1000 genomes]
rs9946242	1.00[EUR][1000 genomes]
rs9948640	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic 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	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
2	chr18:8367800-8398600	Weak transcription	NHLF	lung
3	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:8373400-8394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:8376000-8389600	Weak transcription	Fetal Kidney	kidney
10	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:8377400-8394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:8378600-8398600	Weak transcription	Hela-S3	cervix
14	chr18:8378800-8396600	Weak transcription	HMEC	breast
15	chr18:8378800-8397000	Weak transcription	NHEK	skin
16	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:8379200-8396000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:8379200-8396800	Weak transcription	Primary T cells from cord blood	blood
19	chr18:8379400-8394200	Strong transcription	Adipose Nuclei	Adipose
20	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
22	chr18:8380000-8394200	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:8381000-8405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr18:8382400-8409400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:8382600-8394200	Weak transcription	Brain Substantia Nigra	brain
26	chr18:8382600-8406400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:8382600-8407200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:8382800-8389600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:8383000-8397600	Weak transcription	HSMMtube	muscle
30	chr18:8383600-8389800	Strong transcription	Fetal Stomach	stomach
31	chr18:8383600-8390400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr18:8383600-8391600	Strong transcription	Fetal Thymus	thymus
33	chr18:8383800-8390200	Strong transcription	Left Ventricle	heart
34	chr18:8383800-8390600	Strong transcription	Fetal Muscle Leg	muscle
35	chr18:8383800-8390800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:8383800-8390800	Weak transcription	Colonic Mucosa	Colon
37	chr18:8383800-8392000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:8383800-8395000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:8384000-8390400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:8384200-8390600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr18:8384400-8389600	Strong transcription	Lung	lung
42	chr18:8384400-8390200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:8384600-8390400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr18:8385200-8391000	Weak transcription	Osteobl	bone
45	chr18:8385200-8396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:8385400-8389600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr18:8386200-8389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:8386800-8390400	Strong transcription	Fetal Lung	lung
49	chr18:8387000-8390400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:8387200-8399200	Weak transcription	HepG2	liver

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