Variant report

Variant	rs58529934
Chromosome Location	chr5:112128409-112128410
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	chr5:112123801..112127041-chr5:112128309..112132302,4	K562	blood:
2	chr5:112126744..112130086-chr5:112131543..112134649,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56875042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59028501	1.00[AMR][1000 genomes]
rs59063648	1.00[AMR][1000 genomes]
rs73789225	1.00[AMR][1000 genomes]
rs73789235	1.00[AMR][1000 genomes]
rs73789237	1.00[AMR][1000 genomes]
rs73789238	1.00[AMR][1000 genomes]
rs73791446	0.85[AFR][1000 genomes]
rs73791450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
3	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:112093400-112128600	Weak transcription	Ovary	ovary
5	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:112098000-112128600	Weak transcription	HepG2	liver
10	chr5:112098200-112128600	Weak transcription	Aorta	Aorta
11	chr5:112098200-112129800	Weak transcription	Spleen	Spleen
12	chr5:112098400-112130000	Weak transcription	Fetal Heart	heart
13	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:112104600-112128600	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
18	chr5:112104800-112130800	Weak transcription	Stomach Mucosa	stomach
19	chr5:112105000-112128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:112105000-112128600	Weak transcription	Thymus	Thymus
21	chr5:112108200-112129200	Weak transcription	NH-A	brain
22	chr5:112108400-112130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:112110400-112128800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:112111000-112128600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:112115800-112151200	Weak transcription	NHEK	skin
28	chr5:112116800-112129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:112117000-112130200	Weak transcription	K562	blood
30	chr5:112118000-112128600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:112118200-112128600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:112118200-112128600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:112118200-112128600	Weak transcription	Brain Substantia Nigra	brain
34	chr5:112118200-112128800	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:112118200-112130200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:112118200-112136600	Weak transcription	Pancreas	Pancrea
37	chr5:112118200-112151200	Weak transcription	Gastric	stomach
38	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
39	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
40	chr5:112119000-112130200	Weak transcription	Fetal Kidney	kidney
41	chr5:112119400-112128600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:112120800-112128600	Weak transcription	Lung	lung
43	chr5:112120800-112128800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112121000-112131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:112122000-112132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:112123000-112128600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:112123200-112128600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:112123200-112128600	Weak transcription	NHLF	lung
49	chr5:112123200-112130000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112123200-112130200	Weak transcription	A549	lung

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