Variant report

Variant	rs1234356
Chromosome Location	chr7:150383829-150383830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12154435	0.83[ASN][1000 genomes]
rs12154436	0.83[ASN][1000 genomes]
rs1234357	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1234361	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12532045	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1316352	0.83[ASN][1000 genomes]
rs13225905	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1403220	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34030180	0.82[ASN][1000 genomes]
rs34396063	0.83[ASN][1000 genomes]
rs34585329	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35285840	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35329030	0.83[ASN][1000 genomes]
rs36020504	0.83[ASN][1000 genomes]
rs36065681	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56138121	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56279394	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56412316	0.83[ASN][1000 genomes]
rs59468128	0.82[ASN][1000 genomes]
rs62490361	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62490366	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62491829	0.83[ASN][1000 genomes]
rs73474862	0.83[ASN][1000 genomes]
rs954395	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1234356	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150382200-150385400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:150382400-150385000	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:150382600-150384600	Active TSS	Primary T cells from cord blood	blood
4	chr7:150382600-150384600	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:150382600-150384600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:150382600-150384600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr7:150382600-150384800	Active TSS	Primary T cells fromperipheralblood	blood
8	chr7:150382600-150384800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:150382600-150384800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:150382800-150384200	Active TSS	GM12878-XiMat	blood
11	chr7:150382800-150384400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:150382800-150384600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr7:150382800-150384600	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:150382800-150385000	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr7:150383000-150384600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:150383200-150384200	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:150383200-150384800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:150383200-150385600	Active TSS	Duodenum Mucosa	Duodenum
19	chr7:150383400-150384000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:150383400-150387600	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr7:150383400-150388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:150383600-150384200	Active TSS	Adipose Nuclei	Adipose
23	chr7:150383600-150384600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:150383600-150384800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:150383600-150385400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr7:150383600-150385600	Weak transcription	Lung	lung
27	chr7:150383600-150385600	Weak transcription	Ovary	ovary
28	chr7:150383600-150385600	Weak transcription	Stomach Mucosa	stomach
29	chr7:150383600-150386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:150383600-150387200	Weak transcription	Placenta	Placenta
31	chr7:150383600-150389400	Weak transcription	Fetal Stomach	stomach
32	chr7:150383600-150389600	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:150383600-150390800	Weak transcription	Small Intestine	intestine
34	chr7:150383600-150391000	Weak transcription	Gastric	stomach
35	chr7:150383600-150391400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:150383800-150384000	Active TSS	Primary B cells from cord blood	blood
37	chr7:150383800-150384200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr7:150383800-150384200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:150383800-150384200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:150383800-150384400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:150383800-150384600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:150383800-150384600	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:150383800-150384600	Weak transcription	Liver	Liver
44	chr7:150383800-150384600	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:150383800-150384600	Weak transcription	Thymus	Thymus
46	chr7:150383800-150384600	Weak transcription	Spleen	Spleen
47	chr7:150383800-150384800	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:150383800-150384800	Enhancers	Fetal Thymus	thymus
49	chr7:150383800-150384800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:150383800-150384800	Weak transcription	Right Ventricle	heart

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