Variant report

Variant	rs552846739
Chromosome Location	chr3:143750746-143750747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143691660..143693819-chr3:143749390..143751608,2	K562	blood:
2	chr3:143689173..143691180-chr3:143749985..143751944,2	K562	blood:
3	chr3:143749383..143753486-chr3:143754675..143758635,4	K562	blood:

Variant related genes	Relation type
ENSG00000181744	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	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143747600-143750800	Weak transcription	Ovary	ovary
2	chr3:143748600-143751600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:143749200-143750800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:143749800-143750800	Enhancers	GM12878-XiMat	blood
5	chr3:143750000-143751000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:143750000-143754200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:143750200-143750800	Enhancers	Brain Substantia Nigra	brain
8	chr3:143750200-143751000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:143750200-143751000	Active TSS	Brain Cingulate Gyrus	brain
10	chr3:143750200-143751200	Enhancers	NHEK	skin
11	chr3:143750200-143753600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:143750400-143750800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:143750400-143750800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:143750400-143750800	Enhancers	HSMM	muscle
15	chr3:143750400-143751000	Enhancers	HSMMtube	muscle
16	chr3:143750400-143751800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:143750400-143752600	Enhancers	Colon Smooth Muscle	Colon
18	chr3:143750400-143753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:143750600-143750800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:143750600-143750800	Active TSS	Brain Anterior Caudate	brain
21	chr3:143750600-143750800	Enhancers	Brain Hippocampus Middle	brain
22	chr3:143750600-143750800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr3:143750600-143751000	Enhancers	Liver	Liver
24	chr3:143750600-143751000	Active TSS	Stomach Smooth Muscle	stomach
25	chr3:143750600-143751200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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