Variant report

Variant	rs7697314
Chromosome Location	chr4:15548716-15548717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10008376	0.86[JPT][hapmap]
rs10008889	0.91[CHB][hapmap]
rs10008975	0.86[JPT][hapmap]
rs10020408	0.86[CHB][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs10025837	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs10214	0.86[JPT][hapmap]
rs10939621	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1134634	0.91[CHB][hapmap]
rs11932730	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs11943107	0.86[ASN][1000 genomes]
rs12640192	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs12645849	0.91[CHB][hapmap]
rs12649803	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12651550	0.86[JPT][hapmap]
rs13104845	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116304	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs13121363	0.86[ASN][1000 genomes]
rs13142069	0.87[ASN][1000 genomes]
rs1473166	0.87[ASN][1000 genomes]
rs16892140	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs16892152	0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[ASN][1000 genomes]
rs2041671	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[ASN][1000 genomes]
rs2110361	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2160044	0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[ASN][1000 genomes]
rs28522268	0.81[ASN][1000 genomes]
rs28528670	0.83[ASN][1000 genomes]
rs28534607	0.87[ASN][1000 genomes]
rs3822298	0.87[ASN][1000 genomes]
rs4235380	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs4270584	0.86[JPT][hapmap]
rs4280723	0.86[ASN][1000 genomes]
rs4280724	0.85[ASN][1000 genomes]
rs4393989	0.91[CHB][hapmap]
rs4557256	0.86[JPT][hapmap]
rs4583752	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs4631041	0.86[JPT][hapmap]
rs4698402	0.86[JPT][hapmap]
rs4698408	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs4698409	0.86[JPT][hapmap]
rs56041141	0.81[ASN][1000 genomes]
rs59055524	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60813847	0.87[ASN][1000 genomes]
rs62290565	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6414765	0.86[JPT][hapmap]
rs6449146	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6449147	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6449149	0.84[ASN][1000 genomes]
rs6449161	0.86[JPT][hapmap]
rs73125606	0.88[ASN][1000 genomes]
rs741180	0.86[ASN][1000 genomes]
rs7438356	0.86[JPT][hapmap]
rs759212	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661102	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs7665390	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs7665915	0.91[CHB][hapmap]
rs7682586	0.90[CHB][hapmap]
rs7684446	0.86[ASN][1000 genomes]
rs7685083	0.86[JPT][hapmap]
rs7692607	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7696127	0.86[JPT][hapmap]
rs872678	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs9996452	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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
rs7697314	C1QTNF7	cis	cerebellum	SCAN
rs7697314	FBXL5	Cis_1M	lymphoblastoid	RTeQTL
rs7697314	BOD1L	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
2	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
3	chr4:15502800-15549200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
5	chr4:15508200-15556400	Weak transcription	Colonic Mucosa	Colon
6	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:15509600-15553400	Weak transcription	HepG2	liver
8	chr4:15512000-15580000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:15513000-15562400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:15517800-15551600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
12	chr4:15520000-15572400	Weak transcription	Small Intestine	intestine
13	chr4:15520600-15553400	Weak transcription	A549	lung
14	chr4:15526000-15558200	Weak transcription	Spleen	Spleen
15	chr4:15530200-15556600	Weak transcription	HSMM	muscle
16	chr4:15530800-15554600	Weak transcription	Placenta	Placenta
17	chr4:15530800-15554600	Weak transcription	NH-A	brain
18	chr4:15533000-15554800	Weak transcription	Fetal Brain Male	brain
19	chr4:15537200-15565000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
21	chr4:15537800-15549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:15539000-15570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:15540000-15555600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:15540200-15548800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:15540200-15554400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:15540200-15554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:15540200-15555400	Weak transcription	NHLF	lung
28	chr4:15540200-15556800	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:15540200-15558200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:15540200-15558200	Weak transcription	Brain Angular Gyrus	brain
31	chr4:15540200-15558200	Weak transcription	Brain Anterior Caudate	brain
32	chr4:15540200-15559600	Weak transcription	Esophagus	oesophagus
33	chr4:15540200-15561600	Weak transcription	HMEC	breast
34	chr4:15540200-15561600	Weak transcription	NHEK	skin
35	chr4:15540200-15562600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:15540400-15549200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:15540400-15551600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:15540400-15554600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:15540400-15563200	Weak transcription	Brain Substantia Nigra	brain
40	chr4:15540400-15565000	Weak transcription	NHDF-Ad	bronchial
41	chr4:15541600-15554600	Weak transcription	Osteobl	bone
42	chr4:15542600-15554200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:15543800-15550000	Strong transcription	Colon Smooth Muscle	Colon
44	chr4:15543800-15570600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:15544000-15553800	Weak transcription	Fetal Kidney	kidney
46	chr4:15544400-15553400	Weak transcription	Fetal Intestine Large	intestine
47	chr4:15544400-15562400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:15544600-15563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:15544800-15553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:15544800-15554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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