Variant report

Variant	rs140338215
Chromosome Location	chr5:178004388-178004389
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	chr5:177995855..177997941-chr5:178001993..178004774,2	K562	blood:

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	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
2	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
3	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv883216	chr5:178002325-178025087	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3404450	chr5:178003046-178007344	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3322525	chr5:178004196-178006694	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178003200-178005000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr5:178003400-178004400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr5:178003400-178004400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:178003400-178004800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:178003400-178004800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:178003400-178004800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:178003400-178004800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:178003400-178005000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:178003400-178005000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:178003400-178005000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:178003600-178004400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:178003600-178004400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
13	chr5:178003600-178004400	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr5:178003600-178004400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr5:178003600-178004400	Bivalent Enhancer	Spleen	Spleen
16	chr5:178003600-178004600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:178003600-178004600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:178003600-178004600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr5:178003600-178004600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr5:178003600-178004800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:178003600-178004800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:178003600-178005000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:178003600-178005000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:178003800-178004400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr5:178003800-178004400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr5:178003800-178004400	Bivalent Enhancer	Esophagus	oesophagus
27	chr5:178004000-178004400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:178004000-178004400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr5:178004000-178004400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
30	chr5:178004000-178004400	Flanking Active TSS	Right Ventricle	heart
31	chr5:178004200-178004400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr5:178004200-178004400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:178004200-178004400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:178004200-178004400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:178004200-178004400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr5:178004200-178004400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr5:178004200-178004400	Enhancers	Left Ventricle	heart
38	chr5:178004200-178004400	Bivalent Enhancer	Ovary	ovary
39	chr5:178004200-178004400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr5:178004200-178004600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:178004200-178004600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:178004200-178004600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:178004200-178004800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:178004200-178004800	Bivalent Enhancer	Placenta	Placenta
45	chr5:178004200-178005000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr5:178004200-178005600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:178004200-178012400	Weak transcription	Right Atrium	heart

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