Variant report

Variant	rs543871831
Chromosome Location	chr2:47104646-47104647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47104590..47107409-chr2:47107469..47109857,2	K562	blood:
2	chr2:47029862..47030805-chr2:47103672..47104853,5	MCF-7	breast:
3	chr2:46843927..46845540-chr2:47104189..47106178,2	K562	blood:
4	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:

Variant related genes	Relation type
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	esv3419289	chr2:47103448-47107046	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3360704	chr2:47103648-47107146	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3447978	chr2:47103648-47107146	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47096600-47106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
4	chr2:47098800-47106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:47099600-47106200	Enhancers	Osteobl	bone
6	chr2:47099600-47106800	Enhancers	NHLF	lung
7	chr2:47099800-47106200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:47100000-47106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:47100000-47106400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:47100200-47104800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:47100400-47105200	Enhancers	Fetal Heart	heart
12	chr2:47101200-47104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:47101200-47105200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:47101200-47105600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:47101200-47105800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:47101200-47106200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:47101400-47104800	Weak transcription	Spleen	Spleen
18	chr2:47101400-47105400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:47101400-47106600	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:47101600-47105400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:47101800-47105600	Weak transcription	HUVEC	blood vessel
22	chr2:47102000-47106400	Enhancers	HepG2	liver
23	chr2:47102200-47105800	Enhancers	K562	blood
24	chr2:47102200-47108400	Weak transcription	Adipose Nuclei	Adipose
25	chr2:47102400-47105000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:47102800-47105800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:47103000-47104800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:47103200-47105000	Enhancers	Stomach Mucosa	stomach
29	chr2:47103400-47105600	Weak transcription	HSMMtube	muscle
30	chr2:47103400-47106000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:47103800-47105000	Enhancers	HMEC	breast
32	chr2:47103800-47106000	Enhancers	Hela-S3	cervix
33	chr2:47103800-47106600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:47104000-47106000	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:47104000-47106200	Enhancers	NH-A	brain
36	chr2:47104000-47106600	Enhancers	Fetal Muscle Leg	muscle
37	chr2:47104000-47106800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:47104200-47104800	Enhancers	Colonic Mucosa	Colon
39	chr2:47104200-47104800	Enhancers	Gastric	stomach
40	chr2:47104200-47105000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:47104200-47105800	Enhancers	Right Ventricle	heart
42	chr2:47104200-47106400	Enhancers	Pancreas	Pancrea
43	chr2:47104200-47106400	Enhancers	Right Atrium	heart
44	chr2:47104200-47106600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:47104200-47106600	Enhancers	Fetal Stomach	stomach
46	chr2:47104200-47106600	Enhancers	HSMM	muscle
47	chr2:47104200-47106800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:47104400-47104800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:47104400-47104800	Weak transcription	Fetal Kidney	kidney
50	chr2:47104400-47104800	Weak transcription	Fetal Lung	lung

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