Variant report

Variant	rs543856692
Chromosome Location	chr3:143750854-143750855
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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143748600-143751600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:143750000-143751000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:143750000-143754200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:143750200-143751000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:143750200-143751000	Active TSS	Brain Cingulate Gyrus	brain
6	chr3:143750200-143751200	Enhancers	NHEK	skin
7	chr3:143750200-143753600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:143750400-143751000	Enhancers	HSMMtube	muscle
9	chr3:143750400-143751800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:143750400-143752600	Enhancers	Colon Smooth Muscle	Colon
11	chr3:143750400-143753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:143750600-143751000	Enhancers	Liver	Liver
13	chr3:143750600-143751000	Active TSS	Stomach Smooth Muscle	stomach
14	chr3:143750600-143751200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:143750800-143751000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr3:143750800-143751000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr3:143750800-143751200	Weak transcription	Brain Substantia Nigra	brain
18	chr3:143750800-143751200	Enhancers	Esophagus	oesophagus
19	chr3:143750800-143751200	Active TSS	Right Atrium	heart
20	chr3:143750800-143751200	Flanking Active TSS	HSMM	muscle
21	chr3:143750800-143751200	Enhancers	NH-A	brain
22	chr3:143750800-143751200	Enhancers	NHLF	lung
23	chr3:143750800-143751600	Active TSS	Brain Angular Gyrus	brain
24	chr3:143750800-143751800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:143750800-143751800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:143750800-143751800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:143750800-143751800	Active TSS	Osteobl	bone
28	chr3:143750800-143752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:143750800-143752600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:143750800-143752600	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:143750800-143752800	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:143750800-143753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:143750800-143753200	Enhancers	Ovary	ovary
34	chr3:143750800-143755200	Enhancers	Brain Anterior Caudate	brain

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