Variant report

Variant	rs559636133
Chromosome Location	chr5:177540500-177540501
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177025398..177027289-chr5:177540105..177542434,2	MCF-7	breast:
2	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
3	chr5:177540128..177541993-chrX:153630479..153632171,2	MCF-7	breast:
4	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
5	chr11:62607697..62609963-chr5:177539195..177541814,2	MCF-7	breast:
6	chr5:177539791..177542194-chr5:177578689..177582162,4	K562	blood:
7	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184840	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000013563	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv883186	chr5:177376317-177549491	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
4	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv600391	chr5:177488281-177549491	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
7	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
11	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv883191	chr5:177535370-177551985	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3443720	chr5:177539696-177541944	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177539600-177541400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr5:177539800-177541000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:177539800-177541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:177539800-177541000	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr5:177539800-177541200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:177539800-177541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr5:177539800-177541600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:177539800-177541600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:177539800-177541800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr5:177539800-177541800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:177539800-177541800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:177539800-177541800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:177539800-177542000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:177539800-177542800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:177539800-177543400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr5:177540000-177540600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:177540000-177540600	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:177540000-177540800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:177540000-177540800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:177540000-177540800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr5:177540000-177541000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:177540000-177541000	Active TSS	Placenta Amnion	Placenta Amnion
23	chr5:177540000-177541000	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr5:177540000-177541000	Active TSS	Right Ventricle	heart
25	chr5:177540000-177541000	Bivalent/Poised TSS	NH-A	brain
26	chr5:177540000-177541200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:177540000-177541200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr5:177540000-177541200	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr5:177540000-177541200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr5:177540000-177541200	Bivalent/Poised TSS	A549	lung
31	chr5:177540000-177541200	Active TSS	HUVEC	blood vessel
32	chr5:177540000-177541400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:177540000-177541800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:177540000-177541800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:177540000-177541800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:177540000-177541800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:177540000-177541800	Flanking Active TSS	HMEC	breast
38	chr5:177540000-177542000	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr5:177540000-177542600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:177540200-177540600	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:177540200-177540600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:177540200-177540600	Active TSS	Lung	lung
43	chr5:177540200-177540600	Bivalent/Poised TSS	Thymus	Thymus
44	chr5:177540200-177540600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
45	chr5:177540200-177540800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:177540200-177540800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr5:177540200-177540800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:177540200-177540800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:177540200-177540800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:177540200-177540800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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