Variant report

Variant	rs60504316
Chromosome Location	chr5:118515787-118515788
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118508746..118512101-chr5:118513302..118516471,4	K562	blood:
2	chr5:118510458..118512160-chr5:118512976..118516180,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10056088	0.83[EUR][1000 genomes]
rs10900728	0.96[ASN][1000 genomes]
rs11241482	0.87[ASN][1000 genomes]
rs11241486	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11241492	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12188483	0.87[ASN][1000 genomes]
rs12516300	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12518168	0.96[ASN][1000 genomes]
rs12653377	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12653870	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12657132	0.80[ASN][1000 genomes]
rs12659055	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2036565	0.96[ASN][1000 genomes]
rs3923326	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3992621	0.96[ASN][1000 genomes]
rs4565243	0.86[ASN][1000 genomes]
rs4583917	0.88[EUR][1000 genomes]
rs4639262	0.90[ASN][1000 genomes]
rs57278208	0.91[EUR][1000 genomes]
rs62374138	0.82[EUR][1000 genomes]
rs6595176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6863826	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6874227	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7713483	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7727906	0.96[ASN][1000 genomes]
rs9790885	0.89[EUR][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	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	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
5	chr5:118483000-118541400	Weak transcription	NHEK	skin
6	chr5:118485400-118522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:118485600-118515800	Weak transcription	Hela-S3	cervix
8	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
10	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
12	chr5:118486200-118526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:118486600-118515800	Weak transcription	Osteobl	bone
15	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
16	chr5:118490600-118515800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:118490800-118526000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:118490800-118526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:118490800-118532000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:118491200-118532400	Weak transcription	Fetal Kidney	kidney
21	chr5:118493400-118528000	Weak transcription	Fetal Brain Female	brain
22	chr5:118494600-118534600	Weak transcription	Psoas Muscle	Psoas
23	chr5:118497200-118532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:118497800-118534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:118497800-118535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:118498000-118534400	Weak transcription	Lung	lung
27	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
28	chr5:118499800-118534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:118501800-118515800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:118501800-118515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:118501800-118519200	Weak transcription	Fetal Intestine Small	intestine
32	chr5:118501800-118519200	Weak transcription	Fetal Stomach	stomach
33	chr5:118501800-118520400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:118501800-118524000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:118501800-118526000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:118501800-118533000	Weak transcription	Left Ventricle	heart
37	chr5:118501800-118533800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:118501800-118533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118502000-118528600	Weak transcription	Fetal Thymus	thymus
40	chr5:118502400-118525200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:118503800-118585800	Weak transcription	NH-A	brain
42	chr5:118504200-118522400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:118504600-118522200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:118504600-118522400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:118504600-118522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:118504600-118532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:118504800-118518800	Weak transcription	HUVEC	blood vessel
48	chr5:118504800-118522400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:118504800-118533400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:118505400-118554600	Weak transcription	HepG2	liver

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