Variant report

Variant	rs494039
Chromosome Location	chr5:80286448-80286449
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	chr5:80278839..80280543-chr5:80284483..80286829,2	K562	blood:
2	chr5:80284586..80286843-chr5:80294142..80297037,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs371612	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs434130	0.80[ASN][1000 genomes]
rs444937	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs500676	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs541624	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80277600-80287000	Weak transcription	Right Ventricle	heart
2	chr5:80278000-80293000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:80281400-80290800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:80281400-80290800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:80281600-80286800	Enhancers	Brain Substantia Nigra	brain
6	chr5:80282000-80287400	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:80282400-80286800	Enhancers	Brain Angular Gyrus	brain
8	chr5:80282600-80286600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:80283600-80287800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:80283800-80287800	Weak transcription	Brain Anterior Caudate	brain
11	chr5:80284200-80286600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:80284200-80287600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:80284400-80286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:80284400-80289400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:80284600-80289200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:80284600-80291600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:80284600-80294600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:80284800-80289400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:80285000-80295800	Weak transcription	Left Ventricle	heart
20	chr5:80285200-80287400	Enhancers	HepG2	liver
21	chr5:80285200-80288000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:80285400-80287000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:80285400-80287800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:80285400-80288000	Weak transcription	Primary T cells from cord blood	blood
25	chr5:80285400-80288200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:80285600-80286800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:80285600-80287000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:80285600-80288400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:80285600-80288800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:80285800-80286800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:80285800-80287200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:80285800-80287400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:80285800-80287400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:80285800-80287400	Enhancers	HMEC	breast
35	chr5:80285800-80288000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:80286000-80287000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:80286000-80287400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:80286000-80287400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:80286200-80286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:80286200-80286600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr5:80286200-80287400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:80286200-80287400	Enhancers	NHEK	skin
43	chr5:80286200-80288600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:80286400-80286600	Enhancers	Adipose Nuclei	Adipose
45	chr5:80286400-80286800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:80286400-80287200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:80286400-80287400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:80286400-80290600	Enhancers	Primary T helper cells fromperipheralblood	blood

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