Variant report

Variant	rs3781615
Chromosome Location	chr11:3831304-3831305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3828900..3835031-chr11:3840756..3847684,8	K562	blood:
2	chr11:3829046..3832201-chr11:3860687..3864518,3	MCF-7	breast:
3	chr11:3827764..3831807-chr11:3860648..3864124,7	K562	blood:
4	chr11:3816139..3821205-chr11:3826361..3831544,11	MCF-7	breast:
5	chr11:3829786..3831602-chr11:3876105..3877704,2	K562	blood:

Variant related genes	Relation type
ENSG00000263421	Chromatin interaction
ENSG00000110713	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1037382	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs1037383	0.86[EUR][1000 genomes]
rs1037384	0.87[EUR][1000 genomes]
rs10742170	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10767605	0.86[EUR][1000 genomes]
rs10767606	0.88[EUR][1000 genomes]
rs10767612	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10767619	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10835113	0.85[EUR][1000 genomes]
rs10835117	0.84[EUR][1000 genomes]
rs10835147	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11029824	0.82[EUR][1000 genomes]
rs11029828	0.88[EUR][1000 genomes]
rs11029830	0.87[EUR][1000 genomes]
rs11029836	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11602563	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576671	0.81[EUR][1000 genomes]
rs1530893	0.81[ASN][1000 genomes]
rs2412290	0.88[EUR][1000 genomes]
rs2898936	0.88[EUR][1000 genomes]
rs2898938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117291	0.81[ASN][1000 genomes]
rs7120836	0.89[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.89[ASN][1000 genomes]
rs7946577	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9733994	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3781615	OR52E2	cis	cerebellum	SCAN
rs3781615	OR56A1	cis	parietal	SCAN
rs3781615	TMEM80	cis	cerebellum	SCAN
rs3781615	IFITM3	cis	cerebellum	SCAN
rs3781615	PPFIBP2	cis	cerebellum	SCAN
rs3781615	SMPD1	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3829800-3833400	Enhancers	Fetal Heart	heart
2	chr11:3830200-3831800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:3830200-3831800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:3830200-3831800	Weak transcription	HSMM	muscle
5	chr11:3830200-3832400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:3830200-3832600	Enhancers	Left Ventricle	heart
7	chr11:3830200-3832800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:3830200-3833200	Enhancers	Right Ventricle	heart
9	chr11:3830200-3837200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:3830200-3837600	Weak transcription	Lung	lung
11	chr11:3830200-3845200	Weak transcription	Spleen	Spleen
12	chr11:3830200-3845400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:3830200-3852400	Weak transcription	Fetal Brain Male	brain
14	chr11:3830400-3831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:3830400-3831400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:3830400-3831600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:3830400-3831800	Enhancers	Fetal Intestine Small	intestine
18	chr11:3830400-3832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:3830400-3832000	Enhancers	Esophagus	oesophagus
20	chr11:3830400-3832000	Enhancers	Fetal Intestine Large	intestine
21	chr11:3830400-3832000	Weak transcription	HSMMtube	muscle
22	chr11:3830400-3832000	Weak transcription	Osteobl	bone
23	chr11:3830400-3832400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:3830400-3832400	Enhancers	HMEC	breast
25	chr11:3830400-3833800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:3830400-3834000	Weak transcription	Fetal Thymus	thymus
27	chr11:3830400-3836800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:3830400-3844600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:3830400-3844600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:3830400-3844600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:3830400-3844600	Weak transcription	Thymus	Thymus
32	chr11:3830400-3845000	Weak transcription	Fetal Brain Female	brain
33	chr11:3830400-3846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:3830400-3847200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:3830600-3831400	Enhancers	K562	blood
36	chr11:3830600-3831600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:3830600-3831600	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:3830600-3831600	Enhancers	HepG2	liver
39	chr11:3830600-3831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:3830600-3832000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:3830600-3832200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:3830600-3832200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:3830600-3832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:3830600-3832200	Weak transcription	Fetal Stomach	stomach
45	chr11:3830600-3832200	Enhancers	NHEK	skin
46	chr11:3830600-3832400	Weak transcription	Gastric	stomach
47	chr11:3830600-3832600	Enhancers	NHDF-Ad	bronchial
48	chr11:3830600-3832800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:3830600-3834600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:3830600-3837000	Weak transcription	Primary T cells from cord blood	blood

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