Variant report

Variant	rs2155948
Chromosome Location	chr18:29096919-29096920
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1667216	0.82[GIH][hapmap]
rs1791173	0.82[GIH][hapmap];0.80[EUR][1000 genomes]
rs1791230	0.84[GIH][hapmap]
rs1791235	0.82[GIH][hapmap];0.80[EUR][1000 genomes]
rs1941938	0.80[CEU][hapmap];0.91[CHB][hapmap];0.80[EUR][1000 genomes]
rs2230233	0.80[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.81[EUR][1000 genomes]
rs2276149	0.81[EUR][1000 genomes]
rs2704038	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2704042	0.82[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3108921	0.80[EUR][1000 genomes]
rs3132910	0.80[EUR][1000 genomes]
rs7243604	0.82[GIH][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2155948	DSG4	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29080600-29100000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr18:29080600-29100400	Weak transcription	Fetal Thymus	thymus
3	chr18:29091400-29103800	Weak transcription	Left Ventricle	heart
4	chr18:29092000-29115600	Weak transcription	GM12878-XiMat	blood
5	chr18:29092200-29097000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr18:29092400-29100400	Weak transcription	Liver	Liver
7	chr18:29092800-29104200	Weak transcription	Colonic Mucosa	Colon
8	chr18:29093000-29100600	Weak transcription	Stomach Mucosa	stomach
9	chr18:29093200-29099800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:29093400-29101000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr18:29093400-29103000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:29093600-29099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:29094000-29098600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:29094000-29099400	Weak transcription	K562	blood
15	chr18:29094000-29099600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr18:29094000-29101000	Weak transcription	Placenta	Placenta
17	chr18:29094000-29103600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:29094000-29103800	Weak transcription	NH-A	brain
19	chr18:29094000-29104000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:29094000-29104400	Weak transcription	Fetal Heart	heart
21	chr18:29094000-29104800	Weak transcription	Ovary	ovary
22	chr18:29094000-29104800	Weak transcription	Pancreas	Pancrea
23	chr18:29094000-29110400	Weak transcription	Esophagus	oesophagus
24	chr18:29094000-29118800	Weak transcription	Gastric	stomach
25	chr18:29094000-29121200	Weak transcription	Right Ventricle	heart
26	chr18:29094200-29097800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:29094200-29099800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr18:29094400-29099400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr18:29094400-29099600	Weak transcription	HepG2	liver
30	chr18:29094400-29100000	Weak transcription	HMEC	breast
31	chr18:29094400-29100200	Weak transcription	Hela-S3	cervix
32	chr18:29094600-29097600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr18:29094600-29097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:29094600-29099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:29094600-29099800	Weak transcription	Fetal Intestine Large	intestine
36	chr18:29094600-29099800	Weak transcription	A549	lung
37	chr18:29094800-29099600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:29095200-29097000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr18:29095400-29097000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr18:29095400-29097000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr18:29095400-29097200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr18:29095600-29097200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr18:29095800-29097200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr18:29096200-29098600	Strong transcription	NHEK	skin
45	chr18:29096600-29097000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:29096600-29097000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:29096600-29097200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:29096800-29097000	Strong transcription	Fetal Intestine Small	intestine
49	chr18:29096800-29099200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:29096800-29099400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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