Variant report

Variant	rs4725358
Chromosome Location	chr7:150417677-150417678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr7:150417482-150417705	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150417635-150417685	AG10803	skin:	n/a
2	chr7:150417635-150417685	HCM	heart:	n/a
3	chr7:150417635-150417685	K562	blood:	n/a
4	chr7:150417635-150417685	NHDF-neo	bronchial:	n/a
5	chr7:150417635-150417685	Jurkat	blood:	n/a
6	chr7:150417635-150417685	GM12892	blood:	n/a
7	chr7:150417635-150417685	GM19239	blood:	n/a
8	chr7:150417635-150417685	PFSK-1	brain:	n/a
9	chr7:150417635-150417685	BE2_C	brain:	n/a
10	chr7:150417635-150417685	AG04450	lung:	fetal
11	chr7:150417635-150417685	LNCaP	prostate:	n/a
12	chr7:150417635-150417685	MCF-7	breast:	n/a
13	chr7:150417635-150417685	T-47D	breast:	n/a
14	chr7:150417635-150417685	HEEpiC	esophagus:	n/a
15	chr7:150417635-150417685	H1-hESC	embryonic stem cell:	embryo
16	chr7:150417635-150417685	CMK	blood:	n/a
17	chr7:150417635-150417685	NHBE	bronchial:	n/a
18	chr7:150417635-150417685	HUVEC	blood vessel:	n/a
19	chr7:150417635-150417685	ProgFib	skin:	n/a
20	chr7:150417635-150417685	HepG2	liver:	n/a
21	chr7:150417635-150417685	HRE	kidney:	n/a
22	chr7:150417635-150417685	PrEC	prostate:	n/a
23	chr7:150417635-150417685	AG09309	skin:	n/a
24	chr7:150417635-150417685	NB4	blood:	n/a
25	chr7:150417635-150417685	SK-N-MC	brain:	n/a
26	chr7:150417635-150417685	HCT-116	colon:	n/a
27	chr7:150417635-150417685	MCF10A-Er-Src	breast:	n/a
28	chr7:150417635-150417685	Hela-S3	cervix:	n/a
29	chr7:150417635-150417685	HRCEpiC	kidney:	n/a
30	chr7:150417635-150417685	HMEC	breast:	n/a
31	chr7:150417635-150417685	Hepatocyte	liver:	n/a
32	chr7:150417635-150417685	SK-N-SH	brain:	n/a
33	chr7:150417635-150417685	HRPEpiC	eye:	n/a
34	chr7:150417635-150417685	SK-N-SH_RA	brain:	n/a
35	chr7:150417635-150417685	GM06990	blood:	n/a
36	chr7:150417635-150417685	SKMC	muscle:	n/a
37	chr7:150417635-150417685	ECC-1	luminal epithelium:	n/a
38	chr7:150417635-150417685	HCF	heart:	n/a
39	chr7:150417635-150417685	AG09319	gingival:	n/a
40	chr7:150417635-150417685	AG04449	skin:	fetal
41	chr7:150417635-150417685	PANC-1	pancreas:	n/a
42	chr7:150417635-150417685	HIPEpiC	eye:	n/a
43	chr7:150417635-150417685	HAEpiC	amniotic membrane:	n/a
44	chr7:150417635-150417685	RPTEC	kidney:	n/a
45	chr7:150417635-150417685	NT2-D1	testis:	n/a
46	chr7:150417635-150417685	Caco-2	colon:	n/a
47	chr7:150417635-150417685	SAEC	small airway:	n/a
48	chr7:150417635-150417685	HCPEpiC	choroid plexus:	n/a
49	chr7:150417635-150417685	A549	lung:	n/a
50	chr7:150417635-150417685	HPAEpiC	pulmonary alveolar:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150411749..150416479-chr7:150417256..150421069,5	K562	blood:
2	chr7:150417526..150419124-chr7:150425522..150427293,2	MCF-7	breast:

No data

Variant related genes	Relation type
GIMAP5	TF binding region
GIMAP5	CpG island
ENSG00000213203	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11973417	0.89[EUR][1000 genomes]
rs11983348	0.89[EUR][1000 genomes]
rs11983413	0.89[EUR][1000 genomes]
rs12671822	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2080052	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2098221	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28736331	0.92[EUR][1000 genomes]
rs4725355	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58288826	0.89[EUR][1000 genomes]
rs59274837	0.89[EUR][1000 genomes]
rs60774275	0.89[EUR][1000 genomes]
rs60958118	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61199880	0.95[EUR][1000 genomes]
rs6960820	0.95[EUR][1000 genomes]
rs73474878	0.89[EUR][1000 genomes]
rs73474880	0.89[EUR][1000 genomes]
rs73476552	0.92[EUR][1000 genomes]
rs73476554	0.95[EUR][1000 genomes]
rs73476564	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4725358	GIMAP2	Cis_1M	lymphoblastoid	RTeQTL
rs4725358	GIMAP6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150414000-150419400	Weak transcription	Fetal Lung	lung
2	chr7:150414400-150419200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:150414400-150419600	Weak transcription	Gastric	stomach
4	chr7:150414600-150418000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:150414600-150421800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:150415200-150417800	Weak transcription	Colonic Mucosa	Colon
7	chr7:150415200-150419000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:150415200-150419200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:150415200-150419400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:150415200-150420400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
11	chr7:150415200-150424800	Weak transcription	Pancreas	Pancrea
12	chr7:150415400-150418000	Genic enhancers	Dnd41	blood
13	chr7:150415400-150419000	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:150415400-150419000	Weak transcription	Small Intestine	intestine
15	chr7:150415400-150419200	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:150415600-150418000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
17	chr7:150415600-150419600	Weak transcription	Right Ventricle	heart
18	chr7:150415800-150418400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:150415800-150418400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
20	chr7:150415800-150419400	Weak transcription	Liver	Liver
21	chr7:150415800-150420800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:150416000-150417800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
23	chr7:150416000-150419200	Weak transcription	Brain Anterior Caudate	brain
24	chr7:150416000-150419400	Strong transcription	Fetal Thymus	thymus
25	chr7:150416000-150420200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150416200-150418200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
27	chr7:150416200-150419000	Strong transcription	HUVEC	blood vessel
28	chr7:150416200-150420600	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:150416200-150420800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
30	chr7:150416400-150419400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:150416400-150419400	Weak transcription	Right Atrium	heart
32	chr7:150416400-150419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:150416600-150417800	Strong transcription	Placenta	Placenta
34	chr7:150416600-150418200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:150416600-150419000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:150416600-150419400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:150416800-150419000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:150416800-150422000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:150417000-150418000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:150417000-150418000	Genic enhancers	Spleen	Spleen
41	chr7:150417000-150418200	Genic enhancers	Adipose Nuclei	Adipose
42	chr7:150417000-150419200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr7:150417200-150417800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:150417200-150417800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:150417200-150417800	Strong transcription	Thymus	Thymus
46	chr7:150417200-150418000	ZNF genes & repeats	Lung	lung
47	chr7:150417200-150419400	Weak transcription	Fetal Brain Male	brain
48	chr7:150417400-150417800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr7:150417400-150418000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:150417400-150418000	ZNF genes & repeats	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links