Variant report

Variant	rs17741493
Chromosome Location	chr16:82904992-82904993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11649390	0.85[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap]
rs12446636	1.00[CHB][hapmap]
rs16958781	0.93[LWK][hapmap];1.00[YRI][hapmap]
rs17674527	0.80[YRI][hapmap]
rs1993765	0.82[CEU][hapmap]
rs6565078	0.88[CEU][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap]
rs7190538	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs7205339	0.84[CEU][hapmap]
rs8044380	1.00[CHB][hapmap]
rs8045708	0.82[CEU][hapmap]
rs9319575	0.84[CEU][hapmap]
rs9937259	0.81[CEU][hapmap]
rs9938031	0.84[CEU][hapmap]
rs9940251	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	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
rs17741493	COTL1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82879200-82907000	Weak transcription	Left Ventricle	heart
2	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
3	chr16:82891000-82907000	Weak transcription	Psoas Muscle	Psoas
4	chr16:82891600-82907800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:82897800-82905200	Weak transcription	HSMM	muscle
6	chr16:82899400-82909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82901200-82910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:82904600-82905800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82904800-82905000	ZNF genes & repeats	Aorta	Aorta
10	chr16:82904800-82905000	ZNF genes & repeats	HSMMtube	muscle
11	chr16:82904800-82905600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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

what's new

Quick links