Variant report

Variant	rs147531594
Chromosome Location	chr1:216984520-216984521
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762163	chr1:216982140-217015625	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	esv3430243	chr1:216983179-216985177	Enhancers Weak transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216979000-216986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:216979800-216985000	Weak transcription	Fetal Heart	heart
3	chr1:216979800-216985200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:216979800-216988800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:216979800-216989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:216980000-216984800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:216980200-216986400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:216980200-216987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:216980400-216988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:216981200-216986000	Weak transcription	HSMMtube	muscle
11	chr1:216983200-216988600	Weak transcription	Right Atrium	heart
12	chr1:216983200-216989200	Weak transcription	Gastric	stomach
13	chr1:216983600-216986200	Weak transcription	Psoas Muscle	Psoas
14	chr1:216983600-216986400	Weak transcription	Fetal Lung	lung
15	chr1:216983600-216988600	Weak transcription	Left Ventricle	heart
16	chr1:216983600-216988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:216983800-216985000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:216984000-216985000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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