Variant report

Variant	rs1791230
Chromosome Location	chr18:29131248-29131249
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	chr18:29129102..29131935-chr18:29134564..29137415,2	K562	blood:

Variant related genes	Relation type
ENSG00000264859	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1047433	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1449078	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667216	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1667218	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791173	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];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1791235	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1941938	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2155948	0.84[GIH][hapmap]
rs2230233	0.86[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2276149	0.92[CEU][hapmap];0.86[GIH][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs2595364	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2704038	0.92[EUR][1000 genomes]
rs2704042	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs28376849	0.85[EUR][1000 genomes]
rs3108921	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3132910	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7243604	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv576635	chr18:29129931-29148814	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1791230	DSG4	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29096800-29134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29101400-29131800	Weak transcription	Stomach Mucosa	stomach
3	chr18:29117000-29136000	Weak transcription	A549	lung
4	chr18:29122800-29131800	Weak transcription	Colonic Mucosa	Colon
5	chr18:29123600-29142200	Weak transcription	Fetal Kidney	kidney
6	chr18:29126600-29132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:29126600-29133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:29126600-29136200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:29126800-29136000	Weak transcription	GM12878-XiMat	blood
10	chr18:29126800-29136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:29127000-29136200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:29127200-29131600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:29127200-29131600	Weak transcription	Fetal Lung	lung
14	chr18:29127200-29136000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:29127200-29136200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:29127200-29136200	Weak transcription	Ovary	ovary
17	chr18:29127200-29136200	Weak transcription	Hela-S3	cervix
18	chr18:29127400-29132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:29127400-29136000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:29127600-29136000	Weak transcription	NHEK	skin
21	chr18:29127600-29136200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:29128000-29131600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:29128000-29133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:29129200-29143200	Weak transcription	Gastric	stomach
25	chr18:29129800-29131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:29129800-29134200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr18:29129800-29134200	Weak transcription	Fetal Intestine Small	intestine
28	chr18:29130000-29134400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr18:29130000-29134800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:29130200-29136200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr18:29130400-29135000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr18:29130400-29136200	Weak transcription	HMEC	breast
33	chr18:29130600-29132400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:29130800-29132200	Enhancers	HepG2	liver
35	chr18:29131000-29131600	Enhancers	Fetal Intestine Large	intestine
36	chr18:29131000-29132200	Enhancers	Liver	Liver
37	chr18:29131200-29132200	Enhancers	Placenta	Placenta

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