Variant report

Variant	rs57001486
Chromosome Location	chr5:118645517-118645518
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	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10519579	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11738341	0.90[ASN][1000 genomes]
rs13153732	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs13164306	0.90[EUR][1000 genomes]
rs13171443	0.95[EUR][1000 genomes]
rs13172873	0.95[EUR][1000 genomes]
rs13172935	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs13189229	0.95[EUR][1000 genomes]
rs1394630	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1465396	0.95[EUR][1000 genomes]
rs17145124	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17145129	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17145142	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2012594	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34016408	0.90[EUR][1000 genomes]
rs34207529	0.95[EUR][1000 genomes]
rs34692285	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34902535	0.95[EUR][1000 genomes]
rs35067404	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35113297	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35263427	0.85[EUR][1000 genomes]
rs35605034	0.95[EUR][1000 genomes]
rs35623432	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35831154	0.82[AFR][1000 genomes]
rs35834554	0.90[EUR][1000 genomes]
rs35956442	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35981322	0.95[EUR][1000 genomes]
rs4895363	0.88[ASN][1000 genomes]
rs56840858	0.86[EUR][1000 genomes]
rs58196366	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs59085117	0.90[EUR][1000 genomes]
rs60474651	0.95[EUR][1000 genomes]
rs61179451	0.95[EUR][1000 genomes]
rs61366292	0.90[EUR][1000 genomes]
rs61643326	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6595180	0.90[EUR][1000 genomes]
rs66540474	0.90[EUR][1000 genomes]
rs66601917	0.89[ASN][1000 genomes]
rs67136651	0.95[EUR][1000 genomes]
rs6874081	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6897744	0.95[EUR][1000 genomes]
rs71585210	0.90[EUR][1000 genomes]
rs73248971	0.83[ASN][1000 genomes]
rs73252330	0.95[EUR][1000 genomes]
rs7705109	0.85[EUR][1000 genomes]
rs9327096	0.91[ASN][1000 genomes]
rs999275	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:118639200-118645800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:118639200-118657200	Weak transcription	Lung	lung
7	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
9	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
10	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:118641200-118649000	Weak transcription	NHLF	lung
16	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:118641800-118649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
19	chr5:118642000-118645800	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:118642000-118648800	Weak transcription	Hela-S3	cervix
21	chr5:118643800-118646200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr5:118644000-118645600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:118644000-118645600	Flanking Active TSS	Fetal Thymus	thymus
24	chr5:118644000-118645600	Flanking Active TSS	GM12878-XiMat	blood
25	chr5:118644000-118645800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:118644000-118645800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:118644200-118645600	Enhancers	Fetal Muscle Leg	muscle
28	chr5:118644200-118646000	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:118644200-118646000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:118644200-118648800	Weak transcription	A549	lung
31	chr5:118644400-118646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:118644400-118649400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
34	chr5:118644600-118645600	Enhancers	HSMMtube	muscle
35	chr5:118644800-118648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:118645000-118645600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:118645000-118645600	Flanking Active TSS	Dnd41	blood
38	chr5:118645000-118645800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:118645000-118646000	Flanking Active TSS	Thymus	Thymus
40	chr5:118645000-118646200	Enhancers	K562	blood
41	chr5:118645000-118649000	Weak transcription	Fetal Lung	lung
42	chr5:118645000-118650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:118645000-118651200	Weak transcription	NH-A	brain
44	chr5:118645200-118645600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:118645200-118645600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:118645200-118645600	Enhancers	Spleen	Spleen
47	chr5:118645200-118646000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:118645200-118649600	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:118645200-118649600	Weak transcription	Placenta	Placenta
50	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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