Variant report

Variant	rs75430337
Chromosome Location	chr13:80250905-80250906
allele	A/G
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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900589	chr13:80250511-80310295	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80238600-80255000	Weak transcription	Psoas Muscle	Psoas
2	chr13:80246600-80260600	Weak transcription	Fetal Lung	lung
3	chr13:80248000-80254800	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:80248200-80252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:80248600-80251000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:80248600-80252400	Weak transcription	HSMMtube	muscle
7	chr13:80249000-80251400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:80249200-80253400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:80249800-80252200	Weak transcription	HMEC	breast
10	chr13:80250000-80253400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:80250400-80251400	Enhancers	Fetal Intestine Large	intestine
12	chr13:80250400-80252800	Enhancers	Fetal Intestine Small	intestine
13	chr13:80250600-80252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:80250600-80255200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:80250800-80252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:80250800-80252600	Weak transcription	NHEK	skin

Quick Search:

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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