Variant report

Variant	rs4302764
Chromosome Location	chr7:150148712-150148713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150144587..150147528-chr7:150148010..150150013,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4146035	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4302764	GIMAP8	Cis_1M	lymphoblastoid	RTeQTL
rs4302764	GIMAP8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150147000-150150800	Active TSS	Rectal Smooth Muscle	rectum
2	chr7:150147200-150148800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr7:150147200-150148800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:150147200-150150200	Active TSS	Brain Anterior Caudate	brain
5	chr7:150147200-150151000	Active TSS	Right Atrium	heart
6	chr7:150147400-150148800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150147400-150148800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:150147400-150149400	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:150147400-150149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:150147400-150149600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:150147400-150149600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
12	chr7:150147400-150150800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:150147400-150150800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr7:150147400-150150800	Flanking Active TSS	HUVEC	blood vessel
15	chr7:150147400-150151000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:150147400-150151000	Active TSS	Brain Hippocampus Middle	brain
17	chr7:150147600-150149000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr7:150147600-150149400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
19	chr7:150147600-150149600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:150147600-150149600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:150147600-150149600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:150147600-150149600	Flanking Active TSS	Fetal Thymus	thymus
23	chr7:150147600-150149600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr7:150147600-150150600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr7:150147800-150149200	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr7:150147800-150149400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chr7:150147800-150149400	Bivalent/Poised TSS	Placenta	Placenta
28	chr7:150147800-150149600	Active TSS	Brain Substantia Nigra	brain
29	chr7:150147800-150149600	Active TSS	Colon Smooth Muscle	Colon
30	chr7:150147800-150149600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr7:150147800-150149600	Active TSS	Gastric	stomach
32	chr7:150147800-150150200	Active TSS	Esophagus	oesophagus
33	chr7:150147800-150150400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:150147800-150150400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr7:150147800-150150400	Active TSS	Lung	lung
36	chr7:150147800-150150800	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:150147800-150150800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr7:150147800-150151400	Active TSS	Liver	Liver
39	chr7:150147800-150151400	Active TSS	Colonic Mucosa	Colon
40	chr7:150148000-150148800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:150148000-150149600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr7:150148000-150149600	Active TSS	Brain Angular Gyrus	brain
43	chr7:150148000-150149600	Active TSS	Pancreas	Pancrea
44	chr7:150148000-150150000	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:150148000-150150600	Active TSS	Psoas Muscle	Psoas
46	chr7:150148000-150151000	Active TSS	Small Intestine	intestine
47	chr7:150148200-150149400	Active TSS	Ovary	ovary
48	chr7:150148200-150149600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr7:150148200-150149600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:150148200-150149600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet

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