Variant report

Variant	rs1790692
Chromosome Location	chr18:28644751-28644752
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	chr18:28642756..28645487-chr18:28647010..28648822,3	K562	blood:
2	chr18:28633421..28635335-chr18:28642535..28645515,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10502554	1.00[ASN][1000 genomes]
rs10502555	1.00[ASN][1000 genomes]
rs12326260	1.00[ASN][1000 genomes]
rs16961008	1.00[ASN][1000 genomes]
rs16961011	1.00[ASN][1000 genomes]
rs16961031	1.00[ASN][1000 genomes]
rs55669081	1.00[ASN][1000 genomes]
rs72920731	1.00[ASN][1000 genomes]
rs72920754	1.00[ASN][1000 genomes]
rs8094175	1.00[ASN][1000 genomes]
rs8097404	1.00[ASN][1000 genomes]
rs8098117	1.00[ASN][1000 genomes]
rs9807744	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28636400-28645000	Weak transcription	Fetal Intestine Large	intestine
2	chr18:28636600-28644800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:28636600-28645200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:28637000-28645000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr18:28637000-28647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:28637200-28649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:28638000-28647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:28638200-28649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:28638400-28645400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr18:28639000-28647400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:28639200-28647600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:28639200-28648600	Weak transcription	Pancreas	Pancrea
13	chr18:28639400-28646800	Weak transcription	HepG2	liver
14	chr18:28640600-28648000	Weak transcription	Left Ventricle	heart
15	chr18:28640600-28648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
17	chr18:28642200-28645000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:28642200-28666600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:28642200-28670800	Weak transcription	Fetal Heart	heart
20	chr18:28642600-28645000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr18:28643000-28644800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr18:28643000-28647200	Weak transcription	Liver	Liver
24	chr18:28643200-28645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:28643200-28647400	Weak transcription	Placenta	Placenta
26	chr18:28643600-28645400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:28643600-28645600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:28643600-28645800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:28643600-28645800	Enhancers	HMEC	breast
30	chr18:28643600-28645800	Enhancers	NHEK	skin
31	chr18:28643800-28645600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:28643800-28645800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr18:28644000-28645800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr18:28644000-28648800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:28644000-28648800	Weak transcription	Colonic Mucosa	Colon
36	chr18:28644200-28648800	Weak transcription	Esophagus	oesophagus
37	chr18:28644400-28647800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr18:28644400-28671400	Weak transcription	Brain Anterior Caudate	brain
39	chr18:28644600-28647400	Weak transcription	Duodenum Mucosa	Duodenum

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