Variant report

Variant	rs371246269
Chromosome Location	chr2:72491360-72491361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3450932	chr2:72491349-72491773	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72485200-72501800	Weak transcription	HSMMtube	muscle
2	chr2:72488200-72496600	Weak transcription	Psoas Muscle	Psoas
3	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
4	chr2:72489800-72491400	Enhancers	Brain Substantia Nigra	brain
5	chr2:72490000-72491400	Enhancers	Fetal Heart	heart
6	chr2:72490200-72491400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:72490200-72491400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:72490200-72491400	Enhancers	Brain Angular Gyrus	brain
9	chr2:72490200-72491400	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:72490200-72491400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:72490400-72491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:72490400-72491400	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:72490400-72491400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:72490400-72495800	Weak transcription	Pancreas	Pancrea
15	chr2:72490600-72491400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:72490600-72491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:72490600-72491400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:72490600-72491400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:72490600-72491400	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:72490600-72492200	Enhancers	Colon Smooth Muscle	Colon
21	chr2:72490600-72497200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:72491000-72491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:72491000-72491600	Enhancers	Fetal Stomach	stomach
24	chr2:72491200-72491400	Enhancers	Right Ventricle	heart
25	chr2:72491200-72495800	Weak transcription	Left Ventricle	heart
26	chr2:72491200-72497000	Weak transcription	Right Atrium	heart
27	chr2:72491200-72502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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