Variant report

Variant	rs1791176
Chromosome Location	chr18:29117509-29117510
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	chr18:29112621..29114426-chr18:29114667..29118167,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1047433	0.81[EUR][1000 genomes]
rs1449078	0.82[AFR][1000 genomes]
rs1667216	0.81[EUR][1000 genomes]
rs1667218	0.80[AFR][1000 genomes]
rs1791173	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1791233	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1791235	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1941938	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2230233	0.81[EUR][1000 genomes]
rs2595364	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2704042	0.81[EUR][1000 genomes]
rs28376849	0.81[EUR][1000 genomes]
rs3108921	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3132910	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7243604	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29094000-29118800	Weak transcription	Gastric	stomach
2	chr18:29094000-29121200	Weak transcription	Right Ventricle	heart
3	chr18:29096800-29121800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:29097000-29118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:29097200-29118400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:29097200-29129400	Weak transcription	Small Intestine	intestine
8	chr18:29097600-29128000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr18:29097800-29130600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:29098200-29127600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:29098600-29127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:29099400-29127400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr18:29099400-29128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:29099600-29127400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:29099600-29128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
17	chr18:29102400-29118400	Weak transcription	Thymus	Thymus
18	chr18:29103400-29128200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr18:29104200-29118400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr18:29105200-29127600	Weak transcription	Fetal Heart	heart
21	chr18:29105400-29119200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:29105400-29119200	Weak transcription	Pancreas	Pancrea
23	chr18:29105400-29120200	Weak transcription	Colonic Mucosa	Colon
24	chr18:29107200-29120800	Weak transcription	NH-A	brain
25	chr18:29108400-29119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:29110600-29121800	Strong transcription	Hela-S3	cervix
27	chr18:29110800-29123200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:29111000-29127200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr18:29111000-29127400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:29113000-29123800	Strong transcription	Fetal Intestine Small	intestine
31	chr18:29113400-29118600	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:29113600-29126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr18:29114400-29123600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr18:29114600-29127400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:29114800-29124000	Strong transcription	Fetal Intestine Large	intestine
36	chr18:29115200-29127200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:29115600-29123400	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr18:29115800-29119200	Weak transcription	Fetal Stomach	stomach
39	chr18:29116000-29118200	Strong transcription	HepG2	liver
40	chr18:29116200-29123400	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr18:29116400-29118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:29116400-29118600	Weak transcription	Ovary	ovary
43	chr18:29116400-29124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:29116800-29118400	Weak transcription	HMEC	breast
45	chr18:29117000-29118400	Weak transcription	Fetal Lung	lung
46	chr18:29117000-29118400	Weak transcription	K562	blood
47	chr18:29117000-29118600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:29117000-29118600	Weak transcription	Liver	Liver
49	chr18:29117000-29118600	Weak transcription	Placenta	Placenta
50	chr18:29117000-29118800	Weak transcription	Adipose Nuclei	Adipose

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