Variant report

Variant	rs1791173
Chromosome Location	chr18:29119357-29119358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1047433	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1449078	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667216	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1667218	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1791176	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1791230	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1791233	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1791235	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1941938	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2155948	0.82[GIH][hapmap];0.80[EUR][1000 genomes]
rs2230233	0.96[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes]
rs2276149	0.92[CEU][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs2595364	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704038	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2704042	0.95[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28376849	0.88[EUR][1000 genomes]
rs3108921	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3132910	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7243604	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1791173	DSG4	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29094000-29121200	Weak transcription	Right Ventricle	heart
2	chr18:29096800-29121800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:29097200-29129400	Weak transcription	Small Intestine	intestine
5	chr18:29097600-29128000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:29097800-29130600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:29098200-29127600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:29098600-29127400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:29099400-29127400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr18:29099400-29128000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:29099600-29127400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:29099600-29128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
14	chr18:29103400-29128200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:29105200-29127600	Weak transcription	Fetal Heart	heart
16	chr18:29105400-29120200	Weak transcription	Colonic Mucosa	Colon
17	chr18:29107200-29120800	Weak transcription	NH-A	brain
18	chr18:29108400-29119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:29110600-29121800	Strong transcription	Hela-S3	cervix
20	chr18:29110800-29123200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:29111000-29127200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr18:29111000-29127400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:29113000-29123800	Strong transcription	Fetal Intestine Small	intestine
24	chr18:29113600-29126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:29114400-29123600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr18:29114600-29127400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:29114800-29124000	Strong transcription	Fetal Intestine Large	intestine
28	chr18:29115200-29127200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:29115600-29123400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr18:29116200-29123400	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr18:29116400-29124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:29117000-29120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:29117000-29121600	Weak transcription	Fetal Kidney	kidney
34	chr18:29117000-29121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:29117000-29136000	Weak transcription	A549	lung
36	chr18:29117200-29119400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr18:29117800-29122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:29118000-29123200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr18:29118000-29127400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr18:29118000-29127600	Strong transcription	NHEK	skin
41	chr18:29118200-29119400	Genic enhancers	HepG2	liver
42	chr18:29118200-29123600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:29118400-29119400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr18:29118400-29119600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:29118400-29120000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr18:29118400-29123400	Strong transcription	Fetal Lung	lung
47	chr18:29118400-29123400	Strong transcription	Thymus	Thymus
48	chr18:29118400-29123400	Strong transcription	K562	blood
49	chr18:29118400-29124400	Strong transcription	HMEC	breast
50	chr18:29118400-29126800	Strong transcription	GM12878-XiMat	blood

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