Variant report

Variant	rs17780322
Chromosome Location	chr14:66977301-66977302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:

Variant related genes	Relation type
ENSG00000258561	Chromatin interaction
ENSG00000196553	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17182574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17182630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17780352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72724570	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active 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	14 gene(s)	inside rSNPs	diseases
13	nsv902027	chr14:66975857-67059231	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66973600-66977800	Active TSS	GM12878-XiMat	blood
2	chr14:66974200-66977400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr14:66976200-66977600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:66976400-66977400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:66976400-66977600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:66976400-66980400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:66976600-66977400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:66976600-66977600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:66976600-66977800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:66976600-66977800	Flanking Active TSS	Liver	Liver
11	chr14:66976600-66977800	Enhancers	Colon Smooth Muscle	Colon
12	chr14:66976600-66978200	Weak transcription	NHDF-Ad	bronchial
13	chr14:66976600-66980400	Enhancers	Dnd41	blood
14	chr14:66976600-66989800	Weak transcription	Aorta	Aorta
15	chr14:66976800-66977400	Enhancers	Brain Hippocampus Middle	brain
16	chr14:66976800-66977400	Flanking Active TSS	HepG2	liver
17	chr14:66976800-66977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:66976800-66977800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:66976800-66977800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:66976800-66977800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:66976800-66978800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:66976800-66978800	Weak transcription	Adipose Nuclei	Adipose
23	chr14:66976800-66983600	Weak transcription	Psoas Muscle	Psoas
24	chr14:66977000-66977400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:66977000-66977400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:66977000-66977400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:66977000-66977400	Enhancers	Fetal Brain Female	brain
28	chr14:66977000-66977400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:66977000-66977800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:66977000-66977800	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:66977000-66979800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:66977000-66979800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:66977000-66981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:66977000-66981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:66977200-66977400	Active TSS	Fetal Brain Male	brain
36	chr14:66977200-66977400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
37	chr14:66977200-66977800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:66977200-66977800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:66977200-66978600	Weak transcription	Fetal Heart	heart
40	chr14:66977200-66978600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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