Variant report

Variant	rs531949894
Chromosome Location	chr7:152459573-152459574
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:151814006..151817004-chr7:152456983..152459909,2	K562	blood:
2	chr7:152443156..152446125-chr7:152457371..152459756,3	K562	blood:
3	chr7:152131214..152133795-chr7:152457561..152460908,3	K562	blood:
4	chr7:152442786..152449495-chr7:152455161..152460241,10	K562	blood:
5	chr7:152358838..152361607-chr7:152458753..152460485,2	K562	blood:
6	chr7:152350020..152352895-chr7:152457250..152459622,2	K562	blood:
7	chr7:151289994..151291527-chr7:152457246..152459829,2	K562	blood:
8	chr7:152457650..152460498-chr7:152461318..152464362,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214003	Chromatin interaction
ENSG00000055609	Chromatin interaction
ENSG00000196584	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949483	chr7:151791158-152499822	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
6	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv966912	chr7:152458603-152467072	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152457800-152471000	Weak transcription	Gastric	stomach
2	chr7:152458000-152459600	Enhancers	Fetal Heart	heart
3	chr7:152458200-152459800	Enhancers	Brain Angular Gyrus	brain
4	chr7:152458400-152459600	Active TSS	Fetal Brain Female	brain
5	chr7:152458400-152459600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:152458400-152461600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:152458400-152463200	Weak transcription	Adipose Nuclei	Adipose
8	chr7:152458400-152463400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:152458400-152466600	Weak transcription	Right Atrium	heart
10	chr7:152458600-152462400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:152458600-152462800	Weak transcription	HUVEC	blood vessel
12	chr7:152458800-152459800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:152458800-152460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:152458800-152468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:152459000-152459600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:152459000-152460200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:152459000-152463200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:152459200-152459600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:152459200-152462800	Weak transcription	Brain Anterior Caudate	brain
20	chr7:152459200-152462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:152459200-152463200	Weak transcription	Left Ventricle	heart
22	chr7:152459200-152463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:152459200-152466200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:152459200-152472000	Weak transcription	K562	blood
25	chr7:152459400-152462600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:152459400-152463200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:152459400-152463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:152459400-152463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:152459400-152471600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:152459400-152472000	Weak transcription	GM12878-XiMat	blood

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