Variant report

Variant	rs13338911
Chromosome Location	chr16:69939040-69939041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69934758..69936318-chr16:69938966..69941427,2	K562	blood:
2	chr16:69932903..69936728-chr16:69937454..69941070,4	K562	blood:
3	chr16:69932329..69933873-chr16:69937511..69939359,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13329778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330995	1.00[AMR][1000 genomes]
rs13332544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336041	1.00[AMR][1000 genomes]
rs13336357	1.00[AMR][1000 genomes]
rs13339493	1.00[AMR][1000 genomes]
rs28429826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502677	1.00[AMR][1000 genomes]
rs28523536	1.00[AMR][1000 genomes]
rs28576892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583989	1.00[AMR][1000 genomes]
rs28610117	1.00[AMR][1000 genomes]
rs28628240	1.00[AMR][1000 genomes]
rs28651196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28673794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28756357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28803823	1.00[AMR][1000 genomes]
rs28867427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28882509	1.00[AMR][1000 genomes]
rs3972068	1.00[AMR][1000 genomes]
rs7200890	1.00[AMR][1000 genomes]
rs9923471	1.00[AMR][1000 genomes]
rs9924073	1.00[AMR][1000 genomes]
rs9924630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926382	1.00[AMR][1000 genomes]
rs9928560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930692	1.00[AMR][1000 genomes]
rs9931243	1.00[AFR][1000 genomes]
rs9931479	1.00[AMR][1000 genomes]
rs9933583	1.00[AMR][1000 genomes]
rs9933606	1.00[AMR][1000 genomes]
rs9933745	1.00[AMR][1000 genomes]
rs9935697	1.00[AMR][1000 genomes]
rs9935973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936451	1.00[AMR][1000 genomes]
rs9938552	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
3	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
4	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:69913600-69950400	Weak transcription	A549	lung
6	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
7	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:69923800-69939800	Weak transcription	HSMM	muscle
9	chr16:69923800-69940400	Weak transcription	HSMMtube	muscle
10	chr16:69923800-69942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:69923800-69949200	Weak transcription	Dnd41	blood
12	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
13	chr16:69924000-69942600	Weak transcription	NHEK	skin
14	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:69924600-69942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr16:69924800-69940400	Weak transcription	HMEC	breast
17	chr16:69925000-69939600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:69925000-69940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:69925000-69942400	Weak transcription	Esophagus	oesophagus
20	chr16:69925000-69942600	Weak transcription	Colonic Mucosa	Colon
21	chr16:69925000-69942800	Weak transcription	Fetal Lung	lung
22	chr16:69925200-69939200	Strong transcription	Fetal Intestine Small	intestine
23	chr16:69925200-69940200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:69925400-69951200	Weak transcription	Fetal Kidney	kidney
25	chr16:69925800-69942800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:69926000-69942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:69926000-69942600	Weak transcription	Left Ventricle	heart
28	chr16:69927200-69942400	Weak transcription	Fetal Stomach	stomach
29	chr16:69927400-69942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:69927400-69950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:69928800-69942400	Weak transcription	Liver	Liver
32	chr16:69928800-69942400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:69928800-69942600	Weak transcription	Fetal Brain Female	brain
34	chr16:69929200-69942400	Weak transcription	Brain Anterior Caudate	brain
35	chr16:69929600-69944600	Weak transcription	Gastric	stomach
36	chr16:69929800-69942600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:69930000-69940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:69930000-69942400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:69930000-69942400	Weak transcription	Fetal Thymus	thymus
40	chr16:69930400-69942400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:69930400-69942400	Weak transcription	Thymus	Thymus
42	chr16:69930400-69942600	Weak transcription	Brain Substantia Nigra	brain
43	chr16:69930800-69944600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr16:69931000-69942800	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:69934600-69939800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:69934800-69946600	Strong transcription	Primary T cells from cord blood	blood
47	chr16:69934800-69946800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr16:69934800-69946800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr16:69935200-69940400	Weak transcription	Osteobl	bone
50	chr16:69935200-69942600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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