Variant report

Variant	rs2161094
Chromosome Location	chr5:79549207-79549208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
2	chr5:79521252..79524016-chr5:79546932..79549730,2	MCF-7	breast:
3	chr5:79535394..79538837-chr5:79548301..79551920,3	K562	blood:

Variant related genes	Relation type
ENSG00000239159	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16877662	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58850634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59297647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs881707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881708	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881709	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	22 gene(s)	inside rSNPs	diseases
2	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2161094	SERINC5	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79542400-79550400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:79543600-79550600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:79543800-79549400	Weak transcription	Spleen	Spleen
4	chr5:79543800-79549800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:79544200-79549400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:79544200-79550200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:79544200-79550400	Weak transcription	HSMM	muscle
8	chr5:79544200-79550600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:79544400-79550000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:79544400-79550600	Weak transcription	Hela-S3	cervix
11	chr5:79544600-79549800	Weak transcription	Primary B cells from cord blood	blood
12	chr5:79544600-79549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:79544600-79550400	Weak transcription	HSMMtube	muscle
14	chr5:79544800-79549400	Weak transcription	K562	blood
15	chr5:79544800-79550400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:79544800-79550400	Weak transcription	GM12878-XiMat	blood
17	chr5:79546000-79550400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:79546400-79549800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:79546600-79549800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:79546800-79549800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:79547000-79549800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:79547400-79550000	Enhancers	Adipose Nuclei	Adipose
23	chr5:79547600-79549400	Enhancers	Osteobl	bone
24	chr5:79547600-79549600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:79547600-79549800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr5:79547600-79550000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:79547600-79550400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:79547600-79550400	Enhancers	Pancreas	Pancrea
29	chr5:79547800-79549800	Enhancers	Placenta	Placenta
30	chr5:79547800-79549800	Flanking Active TSS	HepG2	liver
31	chr5:79547800-79550000	Enhancers	Fetal Thymus	thymus
32	chr5:79547800-79551000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr5:79548000-79549600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr5:79548000-79549600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr5:79548000-79550000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:79548000-79550400	Enhancers	Gastric	stomach
37	chr5:79548000-79550400	Enhancers	Stomach Mucosa	stomach
38	chr5:79548200-79549400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr5:79548200-79549800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr5:79548200-79550000	Enhancers	Fetal Heart	heart
41	chr5:79548200-79550400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:79548400-79549400	Weak transcription	HMEC	breast
43	chr5:79548400-79549600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:79548400-79551000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr5:79548600-79549400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
46	chr5:79548600-79549400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:79548600-79549600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:79548600-79549600	Enhancers	Right Ventricle	heart
49	chr5:79548600-79549800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:79548600-79550800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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