Variant report

Variant	rs916844
Chromosome Location	chr7:25361257-25361258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12670308	0.82[ASN][1000 genomes]
rs12700605	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13228488	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4440531	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606424	chr7:24982529-25466521	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv606426	chr7:25254125-25621579	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1028018	chr7:25351950-25371700	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	nsv464409	chr7:25352809-25371700	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv464410	chr7:25354077-25371700	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	nsv606427	chr7:25354077-25371700	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	esv3477924	chr7:25360464-25362564	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	esv3477925	chr7:25360464-25362564	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv12021	chr7:25360557-25362570	Weak transcription Enhancers	lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv606428	chr7:25360909-25362030	Enhancers Weak transcription	lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv606429	chr7:25360909-25362501	Enhancers Weak transcription	lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs916844	MPP6	cis	parietal	SCAN
rs916844	APOC2	trans	parietal	SCAN
rs916844	FAM126A	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25358200-25362200	Enhancers	Ovary	ovary
2	chr7:25358800-25364600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:25360000-25361600	Enhancers	Pancreas	Pancrea
4	chr7:25360000-25361600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr7:25360600-25361400	Enhancers	Fetal Intestine Small	intestine
6	chr7:25360800-25361600	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:25360800-25361600	Enhancers	Fetal Intestine Large	intestine
8	chr7:25361000-25361400	Enhancers	Brain Substantia Nigra	brain
9	chr7:25361000-25361400	Enhancers	Fetal Heart	heart
10	chr7:25361000-25361400	Enhancers	Fetal Lung	lung
11	chr7:25361000-25361600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:25361000-25361600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:25361000-25361600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr7:25361200-25361600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:25361200-25361600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:25361200-25361800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:25361200-25362600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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