Variant report

Variant	rs4725925
Chromosome Location	chr7:150328326-150328327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10241142	0.89[EUR][1000 genomes]
rs10245231	0.88[EUR][1000 genomes]
rs10250584	0.85[EUR][1000 genomes]
rs10260218	0.87[EUR][1000 genomes]
rs10265803	0.87[EUR][1000 genomes]
rs10807981	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10807982	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10952280	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234354	0.84[TSI][hapmap]
rs1234358	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs1234359	0.85[EUR][1000 genomes]
rs1234362	0.85[EUR][1000 genomes]
rs1234363	0.85[EUR][1000 genomes]
rs12534014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12703092	0.87[EUR][1000 genomes]
rs1317559	0.86[CEU][hapmap]
rs17173566	0.82[TSI][hapmap]
rs2049247	0.87[EUR][1000 genomes]
rs2049249	0.87[EUR][1000 genomes]
rs2140144	0.87[EUR][1000 genomes]
rs2373844	0.86[EUR][1000 genomes]
rs3936752	0.85[EUR][1000 genomes]
rs6946579	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6962505	0.87[EUR][1000 genomes]
rs6965369	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4725925	ATP6V0E2	cis	parietal	SCAN
rs4725925	DPP6	cis	parietal	SCAN
rs4725925	GIMAP4	cis	multi-tissue	Pritchard
rs4725925	LR8	cis	multi-tissue	Pritchard
rs4725925	HCA112	cis	multi-tissue	Pritchard
rs4725925	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL
rs4725925	GIMAP8	Cis_1M	lymphoblastoid	RTeQTL
rs4725925	ABCB8	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150322200-150328400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:150323800-150328400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:150324000-150329200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr7:150325600-150328400	Enhancers	Right Ventricle	heart
5	chr7:150327400-150329400	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:150327400-150329800	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:150327600-150328400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:150327600-150328400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr7:150327600-150328400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:150327600-150328600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr7:150327600-150329000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr7:150327600-150329200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr7:150327600-150329600	Active TSS	Placenta	Placenta
14	chr7:150327600-150329800	Active TSS	Esophagus	oesophagus
15	chr7:150327600-150329800	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:150327600-150330000	Active TSS	Brain Hippocampus Middle	brain
17	chr7:150327600-150330000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:150327600-150330000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr7:150327600-150330000	Flanking Active TSS	HUVEC	blood vessel
20	chr7:150327800-150328600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:150327800-150328800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:150327800-150328800	Flanking Active TSS	Fetal Thymus	thymus
23	chr7:150327800-150329400	Active TSS	Pancreas	Pancrea
24	chr7:150327800-150329600	Active TSS	Liver	Liver
25	chr7:150327800-150329600	Active TSS	Lung	lung
26	chr7:150327800-150329800	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:150327800-150330000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr7:150327800-150330000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:150327800-150330000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:150327800-150330000	Active TSS	Right Atrium	heart
31	chr7:150327800-150330200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:150328000-150328400	Flanking Active TSS	Fetal Heart	heart
33	chr7:150328000-150328400	Weak transcription	Gastric	stomach
34	chr7:150328000-150328800	Flanking Active TSS	Thymus	Thymus
35	chr7:150328000-150329400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:150328000-150329400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:150328000-150329600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:150328000-150329600	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr7:150328000-150329600	Active TSS	Adipose Nuclei	Adipose
40	chr7:150328000-150329600	Active TSS	Fetal Muscle Trunk	muscle
41	chr7:150328000-150329800	Active TSS	Brain Anterior Caudate	brain
42	chr7:150328000-150329800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:150328000-150329800	Active TSS	Fetal Muscle Leg	muscle
44	chr7:150328000-150329800	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr7:150328000-150330000	Active TSS	Primary T cells fromperipheralblood	blood
46	chr7:150328000-150330000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr7:150328000-150330000	Active TSS	Psoas Muscle	Psoas
48	chr7:150328200-150328400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:150328200-150328400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:150328200-150328600	Active TSS	Primary B cells from cord blood	blood

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