Variant report

Variant	rs4730501
Chromosome Location	chr7:111432940-111432941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10254599	0.81[ASN][1000 genomes]
rs12671999	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs2078987	0.84[ASN][1000 genomes]
rs2097713	0.81[ASN][1000 genomes]
rs28694530	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2894624	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3757646	0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs3801777	0.81[ASN][1000 genomes]
rs3801778	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4730500	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7790671	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv5901	chr7:111428283-111472968	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4730501	C7orf60	cis	cerebellum	SCAN
rs4730501	B4GALNT2	trans	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
2	chr7:111390400-111435600	Weak transcription	Psoas Muscle	Psoas
3	chr7:111398000-111435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:111398200-111434000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:111400400-111435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:111404600-111435400	Weak transcription	NHEK	skin
7	chr7:111406800-111435600	Weak transcription	Osteobl	bone
8	chr7:111409400-111433000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:111409400-111434000	Weak transcription	Fetal Brain Female	brain
10	chr7:111412000-111433000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:111412000-111435800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:111416000-111433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:111417200-111433200	Weak transcription	Placenta	Placenta
14	chr7:111417200-111435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:111418000-111433000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:111418000-111434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:111418400-111433800	Weak transcription	Brain Germinal Matrix	brain
18	chr7:111418400-111435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:111419800-111435400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:111423600-111435600	Weak transcription	Right Ventricle	heart
21	chr7:111426000-111435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:111426200-111434000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:111429000-111433400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:111429000-111434800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:111429000-111435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:111429000-111435600	Weak transcription	Brain Substantia Nigra	brain
27	chr7:111429000-111435800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:111429400-111433400	Strong transcription	Brain Hippocampus Middle	brain
29	chr7:111430000-111436000	Weak transcription	Fetal Brain Male	brain
30	chr7:111430200-111435600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:111430400-111433000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:111430400-111435400	Weak transcription	Brain Anterior Caudate	brain
33	chr7:111430600-111433000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:111430600-111433200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:111430600-111433400	Weak transcription	Adipose Nuclei	Adipose
36	chr7:111430600-111433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:111430600-111433800	Weak transcription	Left Ventricle	heart
38	chr7:111430600-111434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:111430600-111434000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:111430600-111434000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:111430600-111434000	Weak transcription	Pancreas	Pancrea
42	chr7:111430600-111434400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:111430600-111435200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:111430600-111435400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:111430600-111435400	Weak transcription	HUVEC	blood vessel
46	chr7:111430600-111435800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:111430600-111436000	Weak transcription	HepG2	liver
48	chr7:111430800-111433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:111430800-111433800	Weak transcription	Ovary	ovary
50	chr7:111431000-111433800	Weak transcription	Lung	lung

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