Variant report

Variant	rs534052892
Chromosome Location	chr2:40510799-40510800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3343138	chr2:40510648-40512796	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40500200-40514600	Weak transcription	Fetal Brain Male	brain
2	chr2:40503600-40514800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40504000-40510800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40506200-40510800	Enhancers	HMEC	breast
5	chr2:40506400-40516800	Weak transcription	Small Intestine	intestine
6	chr2:40506600-40511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:40506600-40514600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:40506800-40517200	Weak transcription	Dnd41	blood
9	chr2:40507400-40511000	Enhancers	NHEK	skin
10	chr2:40507600-40511200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40508000-40511400	Flanking Active TSS	HSMMtube	muscle
12	chr2:40508000-40517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:40508400-40511000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:40508600-40511400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:40509000-40514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:40509000-40519400	Weak transcription	Fetal Stomach	stomach
17	chr2:40509200-40512600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:40509200-40517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:40509400-40510800	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:40509400-40511000	Active TSS	Aorta	Aorta
21	chr2:40509400-40511200	Active TSS	Ovary	ovary
22	chr2:40509600-40511200	Enhancers	Left Ventricle	heart
23	chr2:40509800-40510800	Flanking Active TSS	NHLF	lung
24	chr2:40509800-40511000	Enhancers	NHDF-Ad	bronchial
25	chr2:40510000-40510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:40510000-40510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:40510000-40511000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:40510000-40511000	Enhancers	Osteobl	bone
29	chr2:40510000-40511200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:40510000-40511400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:40510000-40512000	Weak transcription	Psoas Muscle	Psoas
32	chr2:40510000-40513600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:40510200-40511000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:40510200-40511200	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:40510200-40511200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:40510200-40512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:40510200-40513800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:40510200-40514000	Weak transcription	NH-A	brain
39	chr2:40510200-40514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:40510200-40514800	Weak transcription	Right Atrium	heart
41	chr2:40510400-40510800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr2:40510400-40510800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:40510400-40511000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:40510400-40511000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:40510400-40511000	Enhancers	Brain Substantia Nigra	brain
46	chr2:40510400-40511200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:40510400-40511400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:40510600-40510800	Flanking Active TSS	HSMM	muscle
49	chr2:40510600-40511000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr2:40510600-40511000	Enhancers	Fetal Muscle Leg	muscle

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