Variant report

Variant	rs535593059
Chromosome Location	chr5:145584553-145584554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145559594..145562426-chr5:145581996..145584629,4	MCF-7	breast:
2	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
3	chr5:145553826..145555566-chr5:145583178..145584730,2	K562	blood:

Variant related genes	Relation type
ENSG00000133706	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145582000-145584800	Active TSS	Hela-S3	cervix
2	chr5:145582000-145585200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:145582000-145585400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:145582000-145585800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:145582200-145584600	Active TSS	HSMM	muscle
6	chr5:145582200-145584800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:145582200-145585000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:145582200-145585200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr5:145582200-145585600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:145582200-145585800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:145582400-145584600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:145582400-145584600	Active TSS	Brain Angular Gyrus	brain
13	chr5:145582400-145584600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:145582400-145584600	Active TSS	Right Ventricle	heart
15	chr5:145582400-145584600	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:145582400-145584800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:145582400-145584800	Active TSS	A549	lung
18	chr5:145582400-145584800	Active TSS	NHLF	lung
19	chr5:145582400-145585000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr5:145582400-145585000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:145582400-145585200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:145582400-145585200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:145582400-145585800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:145582600-145584800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:145582600-145584800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:145582600-145584800	Active TSS	Fetal Kidney	kidney
27	chr5:145582600-145585200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr5:145582600-145585200	Active TSS	HMEC	breast
29	chr5:145582800-145584600	Active TSS	NHEK	skin
30	chr5:145582800-145584800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:145582800-145585400	Active TSS	GM12878-XiMat	blood
32	chr5:145582800-145586000	Active TSS	K562	blood
33	chr5:145583600-145584600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr5:145583600-145584600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:145583600-145584800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:145583600-145585000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr5:145583600-145585000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr5:145583600-145585000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:145583600-145585400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:145583800-145584600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:145583800-145585000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr5:145583800-145585200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr5:145583800-145585200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:145583800-145585400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr5:145583800-145585600	Flanking Active TSS	Dnd41	blood
46	chr5:145583800-145586000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr5:145583800-145589000	Weak transcription	Small Intestine	intestine
48	chr5:145584000-145584600	Weak transcription	Left Ventricle	heart
49	chr5:145584000-145584600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:145584000-145584600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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