Variant report

Variant	rs141114128
Chromosome Location	chr5:177541075-177541076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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	chr5:177540540..177542207-chr5:177659467..177661313,2	K562	blood:
5	chr17:58153519..58156304-chr5:177540532..177542693,2	MCF-7	breast:
6	chr5:177508834..177509399-chr5:177540733..177541622,2	MCF-7	breast:
7	chr5:177504647..177505631-chr5:177540688..177541193,2	MCF-7	breast:
8	chr5:177538337..177541901-chr5:177630904..177633261,3	K562	blood:
9	chr11:62607697..62609963-chr5:177539195..177541814,2	MCF-7	breast:
10	chr5:177507320..177507847-chr5:177540649..177541511,2	MCF-7	breast:
11	chr5:177539791..177542194-chr5:177578689..177582162,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000027847	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000175309	Chromatin interaction
ENSG00000197451	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:116 , 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	chr5:177539800-177541200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:177539800-177541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:177539800-177541600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:177539800-177541600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:177539800-177541800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr5:177539800-177541800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:177539800-177541800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr5:177539800-177541800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:177539800-177542000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr5:177539800-177542800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr5:177539800-177543400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:177540000-177541200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:177540000-177541200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:177540000-177541200	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr5:177540000-177541200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr5:177540000-177541200	Bivalent/Poised TSS	A549	lung
18	chr5:177540000-177541200	Active TSS	HUVEC	blood vessel
19	chr5:177540000-177541400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:177540000-177541800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177540000-177541800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:177540000-177541800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:177540000-177541800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:177540000-177541800	Flanking Active TSS	HMEC	breast
25	chr5:177540000-177542000	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr5:177540000-177542600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:177540200-177541200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:177540200-177541200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:177540200-177541200	Active TSS	Primary T cells from cord blood	blood
30	chr5:177540200-177541200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr5:177540200-177541200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr5:177540200-177541200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr5:177540200-177541200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:177540200-177541200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:177540200-177541200	Weak transcription	Fetal Heart	heart
36	chr5:177540200-177541200	Bivalent Enhancer	Fetal Thymus	thymus
37	chr5:177540200-177541200	Active TSS	Gastric	stomach
38	chr5:177540200-177541200	Active TSS	Ovary	ovary
39	chr5:177540200-177541200	Bivalent/Poised TSS	HSMM	muscle
40	chr5:177540200-177541200	Active TSS	K562	blood
41	chr5:177540200-177541200	Active TSS	NHEK	skin
42	chr5:177540200-177541400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:177540200-177541400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr5:177540200-177541400	Bivalent/Poised TSS	HepG2	liver
45	chr5:177540200-177541600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:177540200-177541600	Bivalent Enhancer	Liver	Liver
47	chr5:177540200-177541800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:177540200-177542000	Active TSS	Left Ventricle	heart
49	chr5:177540200-177542000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr5:177540400-177541200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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