Variant report

Variant	rs73598441
Chromosome Location	chr16:81635344-81635345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81626851..81628862-chr16:81635079..81636974,2	K562	blood:
2	chr16:81633339..81635438-chr16:81635853..81637361,2	MCF-7	breast:
3	chr16:81476934..81479540-chr16:81632481..81635440,2	MCF-7	breast:
4	chr16:81629952..81632348-chr16:81634208..81635852,3	K562	blood:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13331139	1.00[EUR][1000 genomes]
rs16955600	1.00[EUR][1000 genomes]
rs16955606	1.00[EUR][1000 genomes]
rs16955612	1.00[EUR][1000 genomes]
rs4243207	1.00[EUR][1000 genomes]
rs4889338	1.00[EUR][1000 genomes]
rs56360425	1.00[EUR][1000 genomes]
rs56787727	1.00[EUR][1000 genomes]
rs57177093	1.00[EUR][1000 genomes]
rs60095351	1.00[EUR][1000 genomes]
rs60730964	1.00[EUR][1000 genomes]
rs60880568	1.00[EUR][1000 genomes]
rs61079357	1.00[EUR][1000 genomes]
rs61293946	1.00[EUR][1000 genomes]
rs7191922	1.00[EUR][1000 genomes]
rs7191961	1.00[EUR][1000 genomes]
rs7198651	1.00[EUR][1000 genomes]
rs73594488	1.00[EUR][1000 genomes]
rs73596424	1.00[EUR][1000 genomes]
rs73596429	1.00[EUR][1000 genomes]
rs73596439	1.00[EUR][1000 genomes]
rs73596448	1.00[EUR][1000 genomes]
rs73596482	1.00[EUR][1000 genomes]
rs73596490	1.00[EUR][1000 genomes]
rs73596500	1.00[EUR][1000 genomes]
rs73596501	1.00[EUR][1000 genomes]
rs73598433	1.00[EUR][1000 genomes]
rs74031207	1.00[EUR][1000 genomes]
rs74031208	1.00[EUR][1000 genomes]
rs74031210	1.00[EUR][1000 genomes]
rs8057329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:81616800-81640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:81617400-81648800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:81622400-81641400	Weak transcription	K562	blood
6	chr16:81622600-81641200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr16:81623400-81641200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:81623800-81643400	Weak transcription	Primary B cells from cord blood	blood
9	chr16:81624000-81639800	Weak transcription	Dnd41	blood
10	chr16:81624000-81641000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:81624400-81640400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr16:81625000-81640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:81625200-81639800	Weak transcription	Primary T cells from cord blood	blood
14	chr16:81626800-81637800	Enhancers	Placenta	Placenta
15	chr16:81629400-81641800	Weak transcription	GM12878-XiMat	blood
16	chr16:81629400-81645200	Genic enhancers	A549	lung
17	chr16:81630200-81635600	Enhancers	Stomach Mucosa	stomach
18	chr16:81630400-81641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:81630800-81641200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:81631000-81635600	Enhancers	Esophagus	oesophagus
21	chr16:81631200-81639400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr16:81632200-81635800	Enhancers	HMEC	breast
23	chr16:81632200-81640400	Weak transcription	Thymus	Thymus
24	chr16:81632600-81635600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:81632600-81635800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:81632600-81636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:81632800-81635600	Enhancers	Lung	lung
28	chr16:81632800-81635800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:81632800-81635800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:81632800-81636000	Enhancers	Fetal Muscle Leg	muscle
31	chr16:81632800-81636000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr16:81632800-81636200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:81633000-81635800	Enhancers	NHDF-Ad	bronchial
34	chr16:81633000-81636600	Enhancers	Fetal Heart	heart
35	chr16:81633000-81636800	Enhancers	Fetal Stomach	stomach
36	chr16:81633200-81635800	Enhancers	NH-A	brain
37	chr16:81633200-81641000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:81633200-81641200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:81633200-81641400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:81633200-81651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:81633400-81635600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:81633400-81635600	Enhancers	Brain Angular Gyrus	brain
43	chr16:81633400-81636000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:81633400-81636000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr16:81633400-81636600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr16:81633400-81639800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr16:81633400-81641200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr16:81633400-81644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr16:81633600-81635600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:81633600-81638600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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