Variant report

Variant	rs59914360
Chromosome Location	chr18:28647402-28647403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28642756..28645487-chr18:28647010..28648822,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12456949	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1893961	1.00[ASN][1000 genomes]
rs1893962	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893963	1.00[ASN][1000 genomes]
rs9304077	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv2244	chr18:28635554-28666380	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28637200-28649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:28638200-28649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:28639200-28647600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:28639200-28648600	Weak transcription	Pancreas	Pancrea
5	chr18:28640600-28648000	Weak transcription	Left Ventricle	heart
6	chr18:28640600-28648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
8	chr18:28642200-28666600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:28642200-28670800	Weak transcription	Fetal Heart	heart
10	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:28644000-28648800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:28644000-28648800	Weak transcription	Colonic Mucosa	Colon
13	chr18:28644200-28648800	Weak transcription	Esophagus	oesophagus
14	chr18:28644400-28647800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:28644400-28671400	Weak transcription	Brain Anterior Caudate	brain
16	chr18:28644800-28673600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr18:28645000-28652400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr18:28645400-28675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:28645600-28651200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:28645800-28648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:28645800-28648600	Weak transcription	HMEC	breast
22	chr18:28645800-28653400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:28645800-28653800	Weak transcription	NHEK	skin
24	chr18:28645800-28660000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:28646200-28655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:28646200-28658000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:28646400-28648000	Weak transcription	Gastric	stomach
28	chr18:28646600-28655000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:28646800-28650000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:28646800-28652000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr18:28646800-28652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:28646800-28652400	Strong transcription	HepG2	liver
33	chr18:28646800-28673200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:28647000-28648800	Weak transcription	Fetal Intestine Small	intestine
35	chr18:28647000-28679400	Weak transcription	Fetal Kidney	kidney
36	chr18:28647200-28655400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:28647200-28655400	Strong transcription	Liver	Liver
38	chr18:28647200-28656400	Strong transcription	Fetal Intestine Large	intestine
39	chr18:28647200-28667200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:28647400-28647800	Strong transcription	Placenta	Placenta
41	chr18:28647400-28650800	Strong transcription	K562	blood
42	chr18:28647400-28651800	Strong transcription	Adipose Nuclei	Adipose
43	chr18:28647400-28652000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:28647400-28652000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr18:28647400-28652400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:28647400-28652400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:28647400-28655000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:28647400-28655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:28647400-28656400	Strong transcription	Duodenum Mucosa	Duodenum

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