Variant report

Variant	rs572795008
Chromosome Location	chr4:124343668-124343669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124319636..124321563-chr4:124343114..124346032,2	K562	blood:
2	chr4:124337335..124339594-chr4:124343242..124345116,2	K562	blood:
3	chr4:124340419..124342149-chr4:124342290..124345121,2	MCF-7	breast:
4	chr4:124343091..124345315-chr4:124349743..124351770,2	K562	blood:
5	chr4:124342626..124344275-chr4:124363247..124365507,2	K562	blood:

Variant related genes	Relation type
ENSG00000164056	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv595379	chr4:124337522-124395024	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv516959	chr4:124342509-124344717	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124339000-124343800	Enhancers	Fetal Intestine Large	intestine
2	chr4:124339200-124343800	Enhancers	Fetal Intestine Small	intestine
3	chr4:124339200-124349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:124340000-124344800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:124340600-124348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:124341600-124344400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:124341800-124344400	Weak transcription	Small Intestine	intestine
8	chr4:124342400-124343800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:124342600-124343800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:124342600-124343800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:124342600-124344000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:124342800-124343800	Enhancers	Primary B cells from cord blood	blood
13	chr4:124342800-124343800	Active TSS	Right Atrium	heart
14	chr4:124343000-124343800	Active TSS	Primary T cells fromperipheralblood	blood
15	chr4:124343000-124343800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr4:124343000-124343800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr4:124343000-124343800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr4:124343000-124344000	Enhancers	GM12878-XiMat	blood
19	chr4:124343000-124344400	Weak transcription	Fetal Thymus	thymus
20	chr4:124343200-124343800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr4:124343200-124343800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr4:124343200-124343800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:124343200-124344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:124343400-124345400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:124343600-124343800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:124343600-124343800	Enhancers	Primary T cells from cord blood	blood
27	chr4:124343600-124343800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr4:124343600-124343800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:124343600-124343800	Active TSS	K562	blood
30	chr4:124343600-124344000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:124343600-124344000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr4:124343600-124344200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:124343600-124345800	Weak transcription	Primary B cells from peripheral blood	blood

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