Variant report

Variant	rs7675761
Chromosome Location	chr4:15527808-15527809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1058412	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10755215	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10939619	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125379	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11728800	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs11931401	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12508186	1.00[CHD][hapmap]
rs13131700	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs17385493	0.81[ASW][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.90[AMR][1000 genomes]
rs1861048	0.81[CEU][hapmap]
rs2080176	0.81[CEU][hapmap]
rs2080177	0.81[CEU][hapmap]
rs28673332	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3087622	0.80[AMR][1000 genomes]
rs33998592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34465372	0.80[AMR][1000 genomes]
rs4140933	0.81[CEU][hapmap]
rs4698112	0.81[CEU][hapmap]
rs4698114	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698395	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810461	0.81[CEU][hapmap]
rs6839217	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998686	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS 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 miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7675761	FBXL5	cis	multi-tissue	Pritchard
rs7675761	CPEB2	cis	cerebellum	SCAN
rs7675761	C1QTNF7	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
2	chr4:15490400-15539600	Weak transcription	Esophagus	oesophagus
3	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
4	chr4:15498200-15538400	Weak transcription	Fetal Heart	heart
5	chr4:15499600-15528400	Weak transcription	Pancreas	Pancrea
6	chr4:15502000-15539400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:15502400-15539400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:15502800-15549200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
10	chr4:15507600-15538200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:15508200-15538600	Weak transcription	Primary T cells from cord blood	blood
12	chr4:15508200-15556400	Weak transcription	Colonic Mucosa	Colon
13	chr4:15508400-15530000	Weak transcription	NHDF-Ad	bronchial
14	chr4:15508400-15530400	Weak transcription	NH-A	brain
15	chr4:15508800-15545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:15509600-15553400	Weak transcription	HepG2	liver
18	chr4:15512000-15580000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:15513000-15562400	Weak transcription	Primary B cells from cord blood	blood
20	chr4:15513800-15538400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:15515400-15545200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:15516000-15545600	Weak transcription	Fetal Thymus	thymus
23	chr4:15516200-15538000	Weak transcription	Liver	Liver
24	chr4:15517200-15530400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:15517200-15538600	Weak transcription	Brain Angular Gyrus	brain
26	chr4:15517800-15551600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
28	chr4:15518400-15529000	Weak transcription	Placenta	Placenta
29	chr4:15519400-15529200	Weak transcription	Fetal Brain Male	brain
30	chr4:15519400-15538600	Weak transcription	Brain Substantia Nigra	brain
31	chr4:15519400-15539600	Weak transcription	Gastric	stomach
32	chr4:15519800-15539600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:15520000-15572400	Weak transcription	Small Intestine	intestine
34	chr4:15520400-15529000	Weak transcription	Adipose Nuclei	Adipose
35	chr4:15520400-15532200	Weak transcription	Lung	lung
36	chr4:15520400-15538600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:15520400-15539000	Weak transcription	NHLF	lung
38	chr4:15520400-15544200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:15520600-15532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:15520600-15534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:15520600-15538200	Weak transcription	Ovary	ovary
42	chr4:15520600-15538600	Weak transcription	Brain Anterior Caudate	brain
43	chr4:15520600-15538600	Weak transcription	Fetal Intestine Small	intestine
44	chr4:15520600-15539200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:15520600-15539400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:15520600-15544400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:15520600-15544600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:15520600-15545200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:15520600-15553400	Weak transcription	A549	lung
50	chr4:15520800-15529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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