Variant report

Variant	rs12659055
Chromosome Location	chr5:118450841-118450842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118442391..118447973-chr5:118448057..118454025,9	K562	blood:
2	chr5:118443410..118445340-chr5:118449495..118451851,2	K562	blood:
3	chr5:118450748..118453641-chr5:118458726..118460761,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10056088	0.90[EUR][1000 genomes]
rs11241486	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11241492	0.93[EUR][1000 genomes]
rs11738650	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12516300	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12653377	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12653870	0.94[EUR][1000 genomes]
rs3923326	0.85[EUR][1000 genomes]
rs4583917	0.92[EUR][1000 genomes]
rs57278208	0.93[EUR][1000 genomes]
rs60504316	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62374138	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6595176	0.91[EUR][1000 genomes]
rs6863826	0.93[EUR][1000 genomes]
rs6874227	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7713483	0.94[EUR][1000 genomes]
rs9790885	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:120 , 50 per page) page: 1 2 3

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	chr5:118409000-118471200	Weak transcription	Gastric	stomach
4	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
6	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
7	chr5:118416000-118452600	Weak transcription	Psoas Muscle	Psoas
8	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:118417200-118451200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:118417200-118453800	Weak transcription	K562	blood
11	chr5:118419000-118451800	Weak transcription	HUVEC	blood vessel
12	chr5:118424400-118452000	Weak transcription	Hela-S3	cervix
13	chr5:118424400-118452000	Weak transcription	Osteobl	bone
14	chr5:118424400-118454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:118424600-118451800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:118424800-118451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:118427000-118458200	Weak transcription	Spleen	Spleen
18	chr5:118427800-118455800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:118430200-118471400	Weak transcription	Colonic Mucosa	Colon
20	chr5:118430800-118472200	Weak transcription	Esophagus	oesophagus
21	chr5:118431000-118472200	Weak transcription	Small Intestine	intestine
22	chr5:118431400-118453000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:118432200-118451600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:118432200-118451600	Weak transcription	HSMM	muscle
25	chr5:118432800-118451600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:118432800-118459200	Weak transcription	Fetal Brain Female	brain
27	chr5:118433000-118466800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:118433000-118468600	Weak transcription	Fetal Heart	heart
29	chr5:118433400-118452200	Weak transcription	Fetal Kidney	kidney
30	chr5:118433600-118456000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:118433800-118452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:118434000-118457200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr5:118434200-118453200	Weak transcription	HSMMtube	muscle
34	chr5:118434200-118471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:118435000-118451800	Weak transcription	Aorta	Aorta
36	chr5:118435600-118453200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:118435600-118458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:118435800-118451800	Weak transcription	HepG2	liver
39	chr5:118436000-118454200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:118436000-118455600	Weak transcription	Lung	lung
41	chr5:118436200-118451800	Weak transcription	Fetal Lung	lung
42	chr5:118436400-118451600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:118436400-118451800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:118436400-118451800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:118436400-118453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:118437200-118451400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:118438600-118484400	Weak transcription	NHLF	lung
48	chr5:118439400-118457200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:118440000-118455400	Weak transcription	Ovary	ovary
50	chr5:118440200-118455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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