Variant report

Variant	rs3763381
Chromosome Location	chr7:4877012-4877013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10232563	0.91[MEX][hapmap]
rs11982597	0.80[EUR][1000 genomes]
rs13243520	0.83[JPT][hapmap]
rs1877523	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2130280	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2130281	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3763382	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6958275	0.82[EUR][1000 genomes]
rs6958439	0.82[EUR][1000 genomes]
rs6969146	0.80[EUR][1000 genomes]
rs7455996	0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7776704	0.81[EUR][1000 genomes]
rs7797805	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv887388	chr7:4823971-4880954	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3763381	KDELR2	cis	cerebellum	SCAN
rs3763381	PAPOLB	cis	parietal	SCAN
rs3763381	FTSJ2	cis	parietal	SCAN
rs3763381	AMZ1	cis	parietal	SCAN
rs3763381	ACTB	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:4859200-4879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4861000-4877600	Weak transcription	Right Atrium	heart
4	chr7:4865000-4877800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:4865000-4882000	Weak transcription	Ovary	ovary
6	chr7:4865000-4885200	Weak transcription	Brain Anterior Caudate	brain
7	chr7:4870200-4881200	Weak transcription	Spleen	Spleen
8	chr7:4872000-4877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:4875200-4878600	Bivalent Enhancer	Placenta	Placenta
10	chr7:4875200-4880800	Weak transcription	Gastric	stomach
11	chr7:4876000-4877600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:4876000-4877600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:4876000-4881800	Weak transcription	Pancreas	Pancrea
14	chr7:4876200-4890400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4876600-4877200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:4876600-4877200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:4876600-4877200	Enhancers	NHLF	lung
18	chr7:4876600-4877400	Enhancers	Left Ventricle	heart
19	chr7:4876600-4877800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:4876600-4878400	Enhancers	Fetal Stomach	stomach
21	chr7:4876600-4878600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:4876600-4878600	Enhancers	Right Ventricle	heart
23	chr7:4876800-4877200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:4876800-4877200	Active TSS	Fetal Brain Female	brain
25	chr7:4876800-4877200	Enhancers	NHDF-Ad	bronchial
26	chr7:4876800-4877400	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr7:4876800-4878000	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:4876800-4878200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:4876800-4878400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:4876800-4878400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:4876800-4878600	Enhancers	Lung	lung
32	chr7:4876800-4879200	Enhancers	Fetal Muscle Leg	muscle
33	chr7:4877000-4877200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:4877000-4877400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:4877000-4877400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:4877000-4877400	Flanking Active TSS	Fetal Brain Male	brain
37	chr7:4877000-4877400	Flanking Active TSS	Fetal Lung	lung
38	chr7:4877000-4877600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:4877000-4877800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:4877000-4878200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:4877000-4878200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:4877000-4878200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:4877000-4878600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:4877000-4878600	Enhancers	Brain Germinal Matrix	brain
45	chr7:4877000-4878800	Enhancers	Fetal Heart	heart

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