Variant report

Variant	rs576994517
Chromosome Location	chr4:106394383-106394384
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106394178..106395006-chrX:12993425..12994167,2	Hela-S3	cervix:
2	chr4:106393178..106395974-chr4:106403458..106406397,4	K562	blood:
3	chr4:106319989..106322033-chr4:106394167..106395857,2	K562	blood:
4	chr4:106066586..106070319-chr4:106392729..106397085,7	MCF-7	breast:
5	chr4:105817842..105820618-chr4:106392954..106394791,2	MCF-7	breast:
6	chr4:106393672..106395391-chr4:106404396..106406000,2	MCF-7	breast:
7	chr4:106393678..106396634-chr4:106628055..106631625,3	K562	blood:
8	chr4:105893495..105895146-chr4:106393920..106395691,2	MCF-7	breast:
9	chr4:106393662..106395828-chr4:106816451..106818779,3	MCF-7	breast:
10	chr4:106066539..106069010-chr4:106392150..106395317,5	MCF-7	breast:
11	chr4:106393199..106396342-chr4:106628328..106631625,4	K562	blood:
12	chr4:106373864..106376614-chr4:106391989..106394662,2	MCF-7	breast:
13	chr4:106066580..106068131-chr4:106393738..106396130,2	K562	blood:
14	chr1:149223985..149224640-chr4:106394223..106395221,2	Hela-S3	cervix:
15	chr4:106046108..106050165-chr4:106391446..106394724,4	MCF-7	breast:
16	chr4:106064984..106068563-chr4:106391196..106395238,6	K562	blood:
17	chr3:73160092..73160604-chr4:106394372..106395020,2	Hela-S3	cervix:
18	chr4:106368037..106370559-chr4:106393297..106395424,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248373	Chromatin interaction
ENSG00000138780	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000249264	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000205542	Chromatin interaction
ENSG00000138777	Chromatin interaction
ENSG00000138785	Chromatin interaction
ENSG00000168743	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3421073	chr4:106393528-106396476	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106392200-106394600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:106392600-106394400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:106392600-106394400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr4:106392600-106394400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr4:106392600-106394400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:106392600-106394400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:106392600-106394400	Flanking Active TSS	Liver	Liver
8	chr4:106392600-106394400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:106392600-106394400	Flanking Active TSS	NHLF	lung
10	chr4:106392600-106394600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:106392600-106394600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:106392800-106395600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:106393000-106394400	Flanking Active TSS	Fetal Lung	lung
14	chr4:106393000-106394600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr4:106393000-106395400	Active TSS	Fetal Muscle Trunk	muscle
16	chr4:106393000-106395400	Active TSS	Right Atrium	heart
17	chr4:106393000-106395600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:106393200-106394400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:106393400-106394600	Flanking Active TSS	Dnd41	blood
20	chr4:106393400-106395400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:106393400-106395400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:106393400-106395400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:106393400-106395400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr4:106393400-106395600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:106393400-106395600	Active TSS	Right Ventricle	heart
26	chr4:106393600-106394400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr4:106393600-106394800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:106393600-106395400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:106393600-106395400	Active TSS	Left Ventricle	heart
30	chr4:106393600-106395400	Active TSS	Stomach Mucosa	stomach
31	chr4:106393600-106395600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:106393600-106395600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:106393600-106395600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr4:106393600-106395600	Active TSS	Colon Smooth Muscle	Colon
35	chr4:106393600-106395600	Active TSS	Fetal Stomach	stomach
36	chr4:106393600-106395600	Active TSS	A549	lung
37	chr4:106393600-106395600	Active TSS	GM12878-XiMat	blood
38	chr4:106393600-106395800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:106393600-106395800	Active TSS	HMEC	breast
40	chr4:106393600-106395800	Active TSS	K562	blood
41	chr4:106393800-106394400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr4:106393800-106394400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr4:106393800-106394400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr4:106393800-106394400	Flanking Active TSS	Fetal Thymus	thymus
45	chr4:106393800-106394400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr4:106393800-106394600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr4:106393800-106394600	ZNF genes & repeats	Fetal Brain Male	brain
48	chr4:106393800-106395200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:106393800-106395400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:106393800-106395400	Active TSS	Duodenum Smooth Muscle	Duodenum

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