Variant report

Variant	rs298016
Chromosome Location	chr5:58913049-58913050
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	chr5:58909037..58911630-chr5:58912245..58914996,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10805516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159194	0.85[ASN][1000 genomes]
rs159196	0.89[ASN][1000 genomes]
rs159197	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs177078	0.91[ASN][1000 genomes]
rs186078	0.84[ASN][1000 genomes]
rs190936	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294477	0.84[ASN][1000 genomes]
rs294478	0.85[ASN][1000 genomes]
rs294479	0.85[ASN][1000 genomes]
rs294481	0.85[ASN][1000 genomes]
rs294482	0.84[ASN][1000 genomes]
rs294483	0.85[ASN][1000 genomes]
rs294484	0.85[ASN][1000 genomes]
rs294485	0.83[ASN][1000 genomes]
rs294486	0.85[ASN][1000 genomes]
rs294492	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs294495	0.92[ASN][1000 genomes]
rs294496	0.92[ASN][1000 genomes]
rs294497	0.92[ASN][1000 genomes]
rs294498	0.89[ASN][1000 genomes]
rs294499	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs294500	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs294501	0.89[ASN][1000 genomes]
rs294502	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs295943	0.93[EUR][1000 genomes]
rs295944	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs295948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295953	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295966	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295969	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295970	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295972	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295973	0.99[ASN][1000 genomes]
rs295974	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295978	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs295979	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs295980	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs298014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298032	0.83[ASN][1000 genomes]
rs298033	0.83[ASN][1000 genomes]
rs298034	0.88[ASN][1000 genomes]
rs298036	0.91[ASN][1000 genomes]
rs298038	0.89[ASN][1000 genomes]
rs298039	0.89[ASN][1000 genomes]
rs298040	0.92[ASN][1000 genomes]
rs298041	0.93[ASN][1000 genomes]
rs298043	0.92[ASN][1000 genomes]
rs298044	0.93[ASN][1000 genomes]
rs298045	0.93[ASN][1000 genomes]
rs298046	0.92[ASN][1000 genomes]
rs298047	0.93[ASN][1000 genomes]
rs298048	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs298051	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37569	0.84[ASN][1000 genomes]
rs37570	0.85[ASN][1000 genomes]
rs37571	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv598256	chr5:58893286-58939840	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv598257	chr5:58905769-58946639	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3350764	chr5:58911545-58913943	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58897600-58915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58903800-58913400	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:58905200-58913200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58905600-58915800	Weak transcription	HSMMtube	muscle
5	chr5:58908400-58915600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:58910400-58913600	Enhancers	A549	lung
7	chr5:58911400-58929600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58911600-58913200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58911600-58915200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:58911800-58915200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:58911800-58915200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:58911800-58915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:58911800-58915400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:58911800-58915800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:58911800-58916600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:58911800-58918400	Weak transcription	Hela-S3	cervix
17	chr5:58912200-58915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:58912400-58915200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:58912400-58915800	Weak transcription	HSMM	muscle
20	chr5:58912600-58916000	Weak transcription	Osteobl	bone
21	chr5:58912800-58913400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:58913000-58913200	Enhancers	Stomach Mucosa	stomach
23	chr5:58913000-58913600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr5:58913000-58913800	Enhancers	Fetal Intestine Small	intestine
25	chr5:58913000-58914400	Enhancers	Psoas Muscle	Psoas

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