Variant report

Variant	rs12561796
Chromosome Location	chr1:173633528-173633529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61826793	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61826814	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826815	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61826818	1.00[AFR][1000 genomes]
rs61827862	0.83[AFR][1000 genomes]
rs61828917	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12561796	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173623600-173637400	Weak transcription	Brain Anterior Caudate	brain
2	chr1:173625400-173638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:173626000-173637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:173626200-173637400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:173626200-173637400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:173626400-173637200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:173626400-173637400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:173630600-173646600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:173630800-173636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:173631000-173636000	Weak transcription	NHEK	skin
11	chr1:173631000-173638600	Weak transcription	HMEC	breast
12	chr1:173632600-173636000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:173632600-173638600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:173632600-173638600	Weak transcription	HSMM	muscle
15	chr1:173633000-173633600	Enhancers	HSMMtube	muscle

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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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