Variant report

Variant	rs842206
Chromosome Location	chr12:44467245-44467246
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:4)

rs_ID	r²[population]
rs12828607	1.00[LWK][hapmap]
rs1492310	0.87[CHD][hapmap]
rs17554795	1.00[LWK][hapmap]
rs866839	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[AFR][1000 genomes]

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs842206	TMEM117	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44454000-44470400	Weak transcription	Fetal Brain Female	brain
2	chr12:44457000-44470600	Weak transcription	Psoas Muscle	Psoas
3	chr12:44458400-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44460000-44470600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:44463400-44470600	Weak transcription	Aorta	Aorta
6	chr12:44464200-44473600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44464800-44468400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44465200-44469600	Weak transcription	Esophagus	oesophagus
9	chr12:44465200-44470600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:44467000-44467600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:44467000-44470600	Weak transcription	Ovary	ovary
12	chr12:44467200-44467400	Weak transcription	Left Ventricle	heart

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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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