Variant report

Variant	rs4512152
Chromosome Location	chr5:118429590-118429591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10052879	0.85[CEU][hapmap]
rs10900727	0.91[ASN][1000 genomes]
rs11241490	0.88[EUR][1000 genomes]
rs11738702	0.86[EUR][1000 genomes]
rs12658987	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4286709	0.81[ASN][1000 genomes]
rs4533918	0.80[EUR][1000 genomes]
rs4583917	0.85[ASN][1000 genomes]
rs61279074	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62374136	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6595174	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6595178	0.81[ASN][1000 genomes]
rs6874843	0.86[CEU][hapmap]
rs6880622	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734532	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9327087	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:118409000-118435000	Weak transcription	Lung	lung
4	chr5:118409000-118471200	Weak transcription	Gastric	stomach
5	chr5:118409400-118435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:118411200-118435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:118412000-118435000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:118412200-118432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:118412400-118435000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
12	chr5:118415000-118435000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:118415200-118435000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:118415200-118435200	Weak transcription	HepG2	liver
15	chr5:118415200-118443800	Weak transcription	Primary T cells from cord blood	blood
16	chr5:118415200-118447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
18	chr5:118415600-118434600	Weak transcription	Dnd41	blood
19	chr5:118415800-118433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:118416000-118430600	Weak transcription	Left Ventricle	heart
21	chr5:118416000-118439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:118416000-118452600	Weak transcription	Psoas Muscle	Psoas
23	chr5:118416800-118441800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:118417000-118434400	Weak transcription	Adipose Nuclei	Adipose
25	chr5:118417000-118446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:118417200-118434200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:118417200-118451200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:118417200-118453800	Weak transcription	K562	blood
30	chr5:118417600-118434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:118418800-118441200	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:118419000-118430200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:118419000-118451800	Weak transcription	HUVEC	blood vessel
34	chr5:118420000-118434400	Weak transcription	Thymus	Thymus
35	chr5:118422200-118444800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:118423800-118430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:118424200-118430600	Weak transcription	Small Intestine	intestine
38	chr5:118424400-118452000	Weak transcription	Hela-S3	cervix
39	chr5:118424400-118452000	Weak transcription	Osteobl	bone
40	chr5:118424400-118454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:118424600-118431000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:118424600-118434200	Weak transcription	Liver	Liver
43	chr5:118424600-118434400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:118424600-118435000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:118424600-118451800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:118424800-118451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:118426800-118429800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:118426800-118435200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:118427000-118431000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr5:118427000-118433800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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