Variant report

Variant	rs4729974
Chromosome Location	chr7:103871299-103871300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10236401	0.83[MEX][hapmap]
rs12537685	0.91[MEX][hapmap]
rs194836	0.83[MEX][hapmap]
rs194842	0.83[MEX][hapmap]
rs194856	0.83[MEX][hapmap]
rs4486111	0.83[MEX][hapmap]
rs6975834	0.87[MEX][hapmap]
rs9641322	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv1029571	chr7:103855890-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv608066	chr7:103861035-103916484	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv429789	chr7:103862259-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4729974	C7orf47	cis	parietal	SCAN
rs4729974	IL12RB1	trans	parietal	SCAN
rs4729974	HBP1	cis	parietal	SCAN
rs4729974	TAF6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103865200-103871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:103870000-103871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:103870000-103871800	Weak transcription	Stomach Mucosa	stomach
4	chr7:103870800-103871400	Enhancers	Fetal Brain Female	brain
5	chr7:103870800-103872400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:103871000-103871600	Enhancers	Fetal Muscle Leg	muscle
7	chr7:103871000-103871600	Enhancers	HSMM	muscle
8	chr7:103871000-103871800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:103871000-103871800	Enhancers	HSMMtube	muscle
10	chr7:103871000-103872400	Enhancers	Fetal Brain Male	brain
11	chr7:103871000-103872400	Enhancers	Fetal Stomach	stomach
12	chr7:103871000-103872800	Enhancers	Fetal Lung	lung
13	chr7:103871200-103871400	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:103871200-103871600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:103871200-103871800	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr7:103871200-103872000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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