Variant report

Variant	rs7792434
Chromosome Location	chr7:65694348-65694349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13236344	1.00[AFR][1000 genomes]
rs313806	1.00[ASN][1000 genomes]
rs35751092	1.00[AFR][1000 genomes]
rs35791421	1.00[AFR][1000 genomes]
rs36105944	1.00[AFR][1000 genomes]
rs55737143	1.00[ASN][1000 genomes]
rs778688	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778725	0.83[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7792434	GUSB	cis	Whole Blood	GTEx
rs7792434	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
2	chr7:65676000-65696200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:65676200-65696200	Weak transcription	Fetal Stomach	stomach
5	chr7:65677000-65694600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:65685600-65696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:65686800-65701600	Weak transcription	Osteobl	bone
8	chr7:65686800-65715400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:65687000-65701800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:65687000-65701800	Weak transcription	NHDF-Ad	bronchial
11	chr7:65687800-65701800	Weak transcription	Spleen	Spleen
12	chr7:65687800-65703400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:65689400-65703600	Weak transcription	NHLF	lung
14	chr7:65689600-65695800	Weak transcription	Brain Substantia Nigra	brain
15	chr7:65689600-65696200	Weak transcription	Lung	lung
16	chr7:65689600-65697800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:65689600-65701800	Weak transcription	Gastric	stomach
18	chr7:65689600-65715800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:65689800-65695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:65689800-65695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:65689800-65696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:65689800-65697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:65689800-65701800	Weak transcription	Fetal Lung	lung
24	chr7:65689800-65701800	Weak transcription	HMEC	breast
25	chr7:65689800-65702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:65690000-65694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:65690000-65698400	Weak transcription	Liver	Liver
28	chr7:65690200-65701800	Weak transcription	Ovary	ovary
29	chr7:65691200-65700200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:65693600-65694600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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