Variant report

Variant	rs778717
Chromosome Location	chr7:65848151-65848152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10247526	0.93[ASN][1000 genomes]
rs10807701	0.82[ASN][1000 genomes]
rs10807702	0.93[ASN][1000 genomes]
rs10950032	0.91[ASN][1000 genomes]
rs12530490	0.81[ASN][1000 genomes]
rs13235972	0.82[ASN][1000 genomes]
rs1392104	0.93[ASN][1000 genomes]
rs1499613	0.91[ASN][1000 genomes]
rs1499614	0.91[ASN][1000 genomes]
rs1532573	0.93[ASN][1000 genomes]
rs1553174	0.91[ASN][1000 genomes]
rs1818045	0.82[ASN][1000 genomes]
rs1979823	0.84[ASN][1000 genomes]
rs4149468	0.98[ASN][1000 genomes]
rs4718333	0.93[ASN][1000 genomes]
rs4718334	0.81[ASN][1000 genomes]
rs6958420	0.91[ASN][1000 genomes]
rs6964245	0.82[ASN][1000 genomes]
rs6964530	0.82[ASN][1000 genomes]
rs7778911	0.81[ASN][1000 genomes]
rs778679	0.98[ASN][1000 genomes]
rs778683	0.98[ASN][1000 genomes]
rs778687	0.98[ASN][1000 genomes]
rs778688	0.86[EUR][1000 genomes]
rs778691	0.89[ASN][1000 genomes]
rs778693	0.89[ASN][1000 genomes]
rs778698	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778701	0.89[ASN][1000 genomes]
rs778704	0.89[ASN][1000 genomes]
rs778725	0.84[EUR][1000 genomes]
rs778729	0.98[ASN][1000 genomes]
rs778732	0.93[ASN][1000 genomes]
rs778733	0.93[ASN][1000 genomes]
rs7792391	0.93[ASN][1000 genomes]
rs7808834	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv970513	chr7:65842694-65860742	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981506	chr7:65842694-65876873	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs778717	GUSB	cis	Whole Blood	GTEx
rs778717	VKORC1L1	cis	Whole Blood	GTEx
rs778717	ASL	cis	multi-tissue	Pritchard

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65840000-65878400	Weak transcription	Psoas Muscle	Psoas
2	chr7:65840400-65873400	Weak transcription	K562	blood
3	chr7:65840600-65858400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:65841400-65875400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:65842400-65867800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:65843400-65877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:65843600-65878200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:65843800-65851000	Weak transcription	GM12878-XiMat	blood
9	chr7:65844000-65878400	Weak transcription	Thymus	Thymus
10	chr7:65844600-65860400	Weak transcription	Esophagus	oesophagus
11	chr7:65845000-65848800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:65845000-65856000	Weak transcription	Right Atrium	heart
13	chr7:65845000-65866800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:65845000-65867200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:65845000-65867200	Weak transcription	Spleen	Spleen
16	chr7:65845000-65873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:65845000-65873600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:65845000-65878000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:65845000-65878000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:65845000-65878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:65845000-65878200	Weak transcription	Right Ventricle	heart
22	chr7:65845000-65878400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:65845000-65878400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:65845000-65878400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:65845200-65850000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:65845200-65850400	Weak transcription	Lung	lung
27	chr7:65845200-65856200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:65845200-65867200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:65845200-65873400	Weak transcription	HepG2	liver
30	chr7:65845200-65878200	Weak transcription	Left Ventricle	heart
31	chr7:65845200-65878600	Weak transcription	Aorta	Aorta
32	chr7:65845400-65853600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:65845400-65854200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:65845400-65856400	Weak transcription	Fetal Intestine Large	intestine
35	chr7:65845400-65860400	Weak transcription	Osteobl	bone
36	chr7:65845400-65863400	Weak transcription	Brain Angular Gyrus	brain
37	chr7:65845400-65864200	Weak transcription	Primary T cells from cord blood	blood
38	chr7:65845400-65865600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:65845400-65866600	Weak transcription	Adipose Nuclei	Adipose
40	chr7:65845400-65875400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:65845400-65877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:65845400-65878000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:65845400-65878200	Weak transcription	Brain Germinal Matrix	brain
44	chr7:65845400-65878200	Weak transcription	Pancreas	Pancrea
45	chr7:65845600-65848400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:65845600-65849000	Weak transcription	Fetal Stomach	stomach
47	chr7:65845600-65849600	Weak transcription	HUVEC	blood vessel
48	chr7:65845600-65849800	Weak transcription	NHEK	skin
49	chr7:65845600-65850000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:65845600-65855800	Weak transcription	Fetal Intestine Small	intestine

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