Variant report

Variant	rs11030209
Chromosome Location	chr11:3924349-3924350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10160703	1.00[JPT][hapmap]
rs10500589	0.89[JPT][hapmap]
rs10767679	1.00[JPT][hapmap]
rs10767680	1.00[JPT][hapmap]
rs10767681	0.95[JPT][hapmap]
rs10767695	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835232	1.00[JPT][hapmap]
rs10835236	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs10835239	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs10835249	1.00[JPT][hapmap]
rs10835262	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10835270	0.81[EUR][1000 genomes]
rs11030122	1.00[CEU][hapmap]
rs11030211	0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11030213	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869084	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs1869085	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4414209	0.95[CEU][hapmap];0.89[JPT][hapmap]
rs4457735	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472932	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4488188	0.83[ASN][1000 genomes]
rs4497404	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4584571	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4598668	0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4622250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910584	1.00[JPT][hapmap]
rs4910859	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111609	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs7113148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131437	1.00[CEU][hapmap];0.95[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11030209	STIM1	cis	Thyroid	GTEx

Chromatin state (count:77 , 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	chr11:3916600-3924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:3916600-3925400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:3916600-3925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
6	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
7	chr11:3916800-3925400	Weak transcription	Fetal Lung	lung
8	chr11:3921200-3927800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:3921400-3925200	Enhancers	Left Ventricle	heart
10	chr11:3921400-3926600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:3921400-3927400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr11:3921400-3928200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:3921400-3929400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:3921400-3929400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:3921400-3929600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:3921400-3929600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:3921400-3930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:3921600-3924400	Enhancers	GM12878-XiMat	blood
19	chr11:3921600-3924600	Enhancers	Primary B cells from cord blood	blood
20	chr11:3921600-3926000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:3921600-3926200	Enhancers	Lung	lung
22	chr11:3921600-3927400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:3921600-3929600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:3921800-3927400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr11:3921800-3927600	Enhancers	Thymus	Thymus
26	chr11:3921800-3929200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:3921800-3929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:3921800-3929400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:3921800-3929400	Enhancers	K562	blood
30	chr11:3922000-3927600	Enhancers	Fetal Thymus	thymus
31	chr11:3922000-3929200	Enhancers	Primary T cells from cord blood	blood
32	chr11:3922000-3929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:3922200-3924400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:3922200-3926000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:3922400-3927200	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:3922600-3926000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:3922600-3927200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:3922600-3929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:3922600-3929400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:3922800-3925800	Enhancers	Right Ventricle	heart
41	chr11:3922800-3927200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:3922800-3927200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:3922800-3927400	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:3923000-3924800	Enhancers	Pancreas	Pancrea
45	chr11:3923000-3927200	Enhancers	Esophagus	oesophagus
46	chr11:3923000-3927200	Enhancers	Spleen	Spleen
47	chr11:3923000-3927400	Enhancers	Psoas Muscle	Psoas
48	chr11:3923000-3927400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:3923000-3927600	Enhancers	Placenta	Placenta
50	chr11:3923000-3929400	Enhancers	Liver	Liver

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