Variant report

Variant	rs458300
Chromosome Location	chr5:80384221-80384222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80373079..80374953-chr5:80383065..80385003,2	K562	blood:
2	chr5:80380866..80382629-chr5:80384127..80386133,3	K562	blood:
3	chr5:80383984..80386036-chr5:80386317..80388050,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs153226	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs26418	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs26908	0.95[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs26909	0.85[ASN][1000 genomes]
rs27948	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs425847	0.80[ASW][hapmap];0.82[YRI][hapmap]
rs460641	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:80364200-80386200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:80373800-80393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80374400-80384800	Strong transcription	HepG2	liver
5	chr5:80375000-80384400	Strong transcription	Primary T cells from cord blood	blood
6	chr5:80375000-80384400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:80375000-80422600	Weak transcription	Left Ventricle	heart
8	chr5:80375200-80401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:80375400-80385600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:80375600-80384600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:80375600-80393600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:80375800-80400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:80376800-80388400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80377000-80401000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:80377600-80384400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:80377600-80389800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:80381000-80387200	Weak transcription	Right Ventricle	heart
18	chr5:80382800-80384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:80382800-80400600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:80383000-80386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:80383000-80387000	Weak transcription	Gastric	stomach
22	chr5:80383000-80389200	Weak transcription	Spleen	Spleen
23	chr5:80383200-80387000	Weak transcription	Aorta	Aorta
24	chr5:80383200-80388400	Weak transcription	Brain Substantia Nigra	brain
25	chr5:80383200-80409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:80383200-80413600	Weak transcription	Ovary	ovary
27	chr5:80383400-80385000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:80383400-80388400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:80383400-80393800	Weak transcription	NHLF	lung
30	chr5:80383400-80400600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:80383400-80408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:80383400-80414800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:80383400-80421600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:80383600-80385200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:80383600-80392200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:80383600-80394200	Weak transcription	Small Intestine	intestine
37	chr5:80383600-80394400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:80383600-80400800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:80383600-80409000	Weak transcription	Adipose Nuclei	Adipose
40	chr5:80383600-80412600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:80383800-80394400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:80383800-80400600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:80384200-80386200	Weak transcription	Brain Anterior Caudate	brain
44	chr5:80384200-80386800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:80384200-80387800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:80384200-80389800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:80384200-80390200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:80384200-80393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:80384200-80393600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:80384200-80400600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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