Variant report

Variant	rs10054006
Chromosome Location	chr5:118642703-118642704
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10058039	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10463708	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13174838	0.86[GIH][hapmap]
rs6595181	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6595183	0.83[YRI][hapmap]
rs6877107	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6890983	0.92[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs6891989	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6897511	0.84[JPT][hapmap]
rs905831	0.86[GIH][hapmap];0.80[TSI][hapmap]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:118639200-118643600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:118639200-118643800	Weak transcription	Small Intestine	intestine
9	chr5:118639200-118644000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:118639200-118644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:118639200-118644200	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:118639200-118645800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:118639200-118657200	Weak transcription	Lung	lung
15	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:118639400-118644600	Weak transcription	HSMMtube	muscle
17	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
18	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
19	chr5:118639600-118643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:118639600-118643800	Enhancers	Primary T cells from cord blood	blood
21	chr5:118639600-118644000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:118640200-118643400	Weak transcription	Fetal Lung	lung
24	chr5:118640200-118644000	Weak transcription	Placenta	Placenta
25	chr5:118640200-118645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:118640400-118642800	Enhancers	Fetal Thymus	thymus
27	chr5:118640400-118642800	Weak transcription	GM12878-XiMat	blood
28	chr5:118640400-118643200	Weak transcription	Fetal Heart	heart
29	chr5:118640400-118643600	Weak transcription	Adipose Nuclei	Adipose
30	chr5:118640400-118644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:118640400-118644200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:118640400-118644200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:118640400-118644200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:118640400-118644600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:118640400-118645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
37	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:118640600-118644000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:118640600-118644600	Weak transcription	HSMM	muscle
40	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:118640800-118644000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:118641000-118644600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:118641000-118644600	Weak transcription	NH-A	brain
45	chr5:118641200-118649000	Weak transcription	NHLF	lung
46	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:118641400-118644000	Weak transcription	HepG2	liver
48	chr5:118641400-118644000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:118641400-118644600	Weak transcription	NHEK	skin
50	chr5:118641600-118644000	Enhancers	Primary hematopoietic stem cells	blood

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