Variant report

Variant	rs13354488
Chromosome Location	chr5:178500395-178500396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178490747..178493004-chr5:178499608..178501771,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13362087	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877055	0.82[AFR][1000 genomes]
rs73806509	1.00[AMR][1000 genomes]
rs73806848	1.00[AMR][1000 genomes]
rs73806853	0.82[AFR][1000 genomes]
rs73806854	0.82[AFR][1000 genomes]
rs73806855	0.90[AFR][1000 genomes]
rs7713386	1.00[AMR][1000 genomes]
rs9329065	1.00[YRI][hapmap];1.00[AMR][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	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1018650	chr5:178428743-178515196	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1024994	chr5:178429975-178505167	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1025616	chr5:178429975-178515196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027487	chr5:178455495-178510587	Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1023392	chr5:178495775-178516483	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1021642	chr5:178495775-178535309	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178488200-178511000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:178488400-178508400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr5:178488400-178511600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:178488400-178512000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:178488600-178517200	ZNF genes & repeats	Liver	Liver
6	chr5:178489400-178511400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:178490400-178500800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr5:178490600-178517400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:178492200-178508400	ZNF genes & repeats	Fetal Lung	lung
10	chr5:178492600-178508000	ZNF genes & repeats	Colon Smooth Muscle	Colon
11	chr5:178492600-178512200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr5:178492600-178513400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:178492800-178508200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr5:178492800-178511200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:178492800-178517200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:178492800-178517200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr5:178497600-178500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:178497600-178500800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:178497600-178500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:178497600-178500800	Weak transcription	Esophagus	oesophagus
21	chr5:178497600-178500800	Weak transcription	Thymus	Thymus
22	chr5:178497800-178501400	Weak transcription	Osteobl	bone
23	chr5:178498400-178511000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr5:178498600-178511400	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr5:178498600-178512000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:178498600-178512000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:178499000-178500600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:178499000-178500600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:178499000-178500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:178499000-178500800	Weak transcription	Left Ventricle	heart
31	chr5:178499000-178500800	Weak transcription	Ovary	ovary
32	chr5:178499000-178501400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:178499200-178500400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:178499200-178501400	Weak transcription	Fetal Heart	heart
35	chr5:178499200-178501400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:178499400-178500800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:178499600-178500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:178499600-178508200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:178499800-178501800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr5:178499800-178507000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:178499800-178508800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:178500000-178500400	Strong transcription	HSMM	muscle
43	chr5:178500000-178503000	Weak transcription	Fetal Kidney	kidney
44	chr5:178500000-178507200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:178500000-178507200	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr5:178500200-178507000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood

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