Variant report

Variant	rs62374138
Chromosome Location	chr5:118458962-118458963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118450748..118453641-chr5:118458726..118460761,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056088	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11241486	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11241492	0.87[EUR][1000 genomes]
rs11738650	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12516300	0.88[EUR][1000 genomes]
rs12653377	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12653870	0.87[EUR][1000 genomes]
rs12659055	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4583917	0.86[EUR][1000 genomes]
rs57278208	0.86[EUR][1000 genomes]
rs60504316	0.82[EUR][1000 genomes]
rs6595176	0.83[EUR][1000 genomes]
rs6863826	0.86[EUR][1000 genomes]
rs6874227	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7713483	0.87[EUR][1000 genomes]
rs9790885	0.83[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118409000-118471200	Weak transcription	Gastric	stomach
2	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
4	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
5	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:118430200-118471400	Weak transcription	Colonic Mucosa	Colon
7	chr5:118430800-118472200	Weak transcription	Esophagus	oesophagus
8	chr5:118431000-118472200	Weak transcription	Small Intestine	intestine
9	chr5:118432800-118459200	Weak transcription	Fetal Brain Female	brain
10	chr5:118433000-118466800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:118433000-118468600	Weak transcription	Fetal Heart	heart
12	chr5:118434200-118471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:118438600-118484400	Weak transcription	NHLF	lung
14	chr5:118442000-118465200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:118442200-118472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:118442400-118465200	Weak transcription	Brain Angular Gyrus	brain
17	chr5:118443200-118472200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:118444000-118472000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:118444800-118471200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:118445600-118467200	Weak transcription	A549	lung
21	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:118448800-118471600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
24	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:118452400-118465000	Weak transcription	Fetal Brain Male	brain
26	chr5:118452600-118460000	Strong transcription	Fetal Stomach	stomach
27	chr5:118452600-118465000	Weak transcription	HSMM	muscle
28	chr5:118452600-118468800	Weak transcription	NHDF-Ad	bronchial
29	chr5:118452800-118472400	Weak transcription	Hela-S3	cervix
30	chr5:118453000-118472400	Weak transcription	Psoas Muscle	Psoas
31	chr5:118453400-118464000	Weak transcription	Brain Anterior Caudate	brain
32	chr5:118453400-118465000	Weak transcription	HUVEC	blood vessel
33	chr5:118453600-118465200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:118453600-118471200	Weak transcription	Aorta	Aorta
35	chr5:118453800-118465200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:118454000-118465000	Weak transcription	Fetal Kidney	kidney
38	chr5:118454000-118465000	Weak transcription	HSMMtube	muscle
39	chr5:118454000-118465200	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:118454200-118459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:118454200-118464000	Weak transcription	Brain Substantia Nigra	brain
42	chr5:118454200-118465000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:118454200-118468800	Weak transcription	Osteobl	bone
44	chr5:118454600-118465200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:118454800-118459400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:118454800-118465000	Weak transcription	NH-A	brain
47	chr5:118455000-118465000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:118455000-118465400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:118455200-118459200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:118455600-118459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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