Variant report

Variant	rs190321749
Chromosome Location	chr13:75973720-75973721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75966000-75977000	Weak transcription	Right Ventricle	heart
2	chr13:75969200-75975000	Weak transcription	Fetal Kidney	kidney
3	chr13:75969400-75974200	Weak transcription	Small Intestine	intestine
4	chr13:75970200-75975400	Weak transcription	Ovary	ovary
5	chr13:75971000-75979200	Enhancers	HepG2	liver
6	chr13:75972000-75977000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr13:75972200-75977000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:75972600-75974000	Weak transcription	Left Ventricle	heart
9	chr13:75972600-75974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:75972800-75980000	Weak transcription	Osteobl	bone
11	chr13:75973000-75974000	Weak transcription	Fetal Heart	heart
12	chr13:75973400-75974000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:75973400-75974400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:75973400-75974400	Enhancers	Psoas Muscle	Psoas
15	chr13:75973400-75974400	Enhancers	HSMMtube	muscle
16	chr13:75973400-75977400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:75973400-75987200	Weak transcription	Gastric	stomach
18	chr13:75973600-75974200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:75973600-75975600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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

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