Variant report

Variant	rs11030211
Chromosome Location	chr11:3924775-3924776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3856690..3859651-chr11:3923487..3926429,3	K562	blood:
2	chr11:3856690..3859651-chr11:3923487..3926429,2	K562	blood:
3	chr11:3924735..3926822-chr11:3929983..3932371,3	K562	blood:

Variant related genes	Relation type
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10160703	0.85[JPT][hapmap]
rs10767679	0.85[JPT][hapmap]
rs10767680	0.85[JPT][hapmap]
rs10767681	0.85[JPT][hapmap]
rs10767695	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10835232	0.85[JPT][hapmap]
rs10835239	0.85[JPT][hapmap]
rs10835249	0.85[JPT][hapmap]
rs10835262	0.85[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap]
rs10835270	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11030209	0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11030213	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869084	0.88[MEX][hapmap];0.84[TSI][hapmap]
rs1869085	0.85[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs4414209	0.82[MEX][hapmap];0.84[TSI][hapmap]
rs4457735	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4472932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4488188	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4497404	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4598668	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4622250	0.86[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap]
rs4910584	0.85[JPT][hapmap]
rs4910859	0.82[ASN][1000 genomes]
rs7111609	0.85[JPT][hapmap]
rs7113148	0.85[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7131437	0.85[JPT][hapmap]

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	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	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
6	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
7	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11030211	OR51G2	cis	parietal	SCAN
rs11030211	RRM1	cis	cerebellum	SCAN
rs11030211	IFITM3	cis	parietal	SCAN
rs11030211	TRIM21	cis	cerebellum	SCAN
rs11030211	MRGPRE	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:3916600-3925400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:3916600-3925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
5	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
6	chr11:3916800-3925400	Weak transcription	Fetal Lung	lung
7	chr11:3921200-3927800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:3921400-3925200	Enhancers	Left Ventricle	heart
9	chr11:3921400-3926600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:3921400-3927400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:3921400-3928200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:3921400-3929400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:3921400-3929400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:3921400-3929600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:3921400-3929600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:3921400-3930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:3921600-3926000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:3921600-3926200	Enhancers	Lung	lung
19	chr11:3921600-3927400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:3921600-3929600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:3921800-3927400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:3921800-3927600	Enhancers	Thymus	Thymus
23	chr11:3921800-3929200	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:3921800-3929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:3921800-3929400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr11:3921800-3929400	Enhancers	K562	blood
27	chr11:3922000-3927600	Enhancers	Fetal Thymus	thymus
28	chr11:3922000-3929200	Enhancers	Primary T cells from cord blood	blood
29	chr11:3922000-3929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:3922200-3926000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:3922400-3927200	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:3922600-3926000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:3922600-3927200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:3922600-3929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:3922600-3929400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:3922800-3925800	Enhancers	Right Ventricle	heart
37	chr11:3922800-3927200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:3922800-3927200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:3922800-3927400	Enhancers	Primary hematopoietic stem cells	blood
40	chr11:3923000-3924800	Enhancers	Pancreas	Pancrea
41	chr11:3923000-3927200	Enhancers	Esophagus	oesophagus
42	chr11:3923000-3927200	Enhancers	Spleen	Spleen
43	chr11:3923000-3927400	Enhancers	Psoas Muscle	Psoas
44	chr11:3923000-3927400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:3923000-3927600	Enhancers	Placenta	Placenta
46	chr11:3923000-3929400	Enhancers	Liver	Liver
47	chr11:3923200-3927200	Enhancers	Stomach Mucosa	stomach
48	chr11:3923400-3926000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:3923600-3926000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:3923600-3927000	Enhancers	Dnd41	blood

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