Variant report

Variant	rs11030326
Chromosome Location	chr11:3956049-3956050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3945769..3947956-chr11:3954532..3958241,3	K562	blood:
2	chr11:3860417..3863176-chr11:3955299..3957072,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10430939	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10458900	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10500591	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[ASN][1000 genomes]
rs10500592	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10500593	1.00[AFR][1000 genomes]
rs11030251	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11030286	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11030327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030366	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11030417	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11030418	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11030453	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11030478	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030479	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030481	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030484	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030485	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030486	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030697	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11030796	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11525342	0.89[ASN][1000 genomes]
rs11529865	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12222250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12224469	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1372803	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16929410	0.81[CHB][hapmap];1.00[MKK][hapmap]
rs16929438	0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs16929467	0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16929477	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16929480	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16929488	0.82[CEU][hapmap];0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs16929492	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs16929529	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929531	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929538	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929540	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs16929542	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16929546	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16929611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16929616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16929653	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1822286	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1899478	0.84[ASN][1000 genomes]
rs2167563	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[ASN][1000 genomes]
rs3750994	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4910878	0.88[CHB][hapmap]
rs55679086	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55978228	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56126231	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56140937	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59195871	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59242983	0.85[ASN][1000 genomes]
rs60930198	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61897162	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61897163	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897164	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61897166	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61897167	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61897170	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61897171	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61897194	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61897195	0.97[ASN][1000 genomes]
rs61897201	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61897202	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61897203	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61897234	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61897237	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs61897238	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61897254	0.82[ASN][1000 genomes]
rs6578423	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.99[ASN][1000 genomes]
rs723779	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs72847181	0.93[EUR][1000 genomes]
rs72851736	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs750526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928117	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7934581	0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs7941743	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs894454	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
8	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3938400-3956400	Weak transcription	Dnd41	blood
2	chr11:3948400-3960400	Weak transcription	NHEK	skin
3	chr11:3948800-3960800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:3949000-3961400	Weak transcription	Right Atrium	heart
5	chr11:3949400-3959400	Weak transcription	Fetal Lung	lung
6	chr11:3950000-3957600	Weak transcription	GM12878-XiMat	blood
7	chr11:3950400-3972200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:3950800-3956200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:3951000-3957400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:3951000-3960600	Weak transcription	Stomach Mucosa	stomach
11	chr11:3951200-3965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:3951200-3967600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:3951400-3956400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:3951400-3959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:3951400-3959200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:3951400-3959800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:3951400-3961400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:3951400-3963400	Weak transcription	A549	lung
19	chr11:3951400-3963600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:3951600-3959800	Weak transcription	Adipose Nuclei	Adipose
21	chr11:3951600-3963400	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:3951800-3959600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:3952000-3963400	Weak transcription	Pancreas	Pancrea
24	chr11:3952200-3961000	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:3953200-3956800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:3953200-3957400	Weak transcription	Ovary	ovary
27	chr11:3953400-3957600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:3954000-3958200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:3954000-3960400	Enhancers	Psoas Muscle	Psoas
30	chr11:3954000-3963800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:3954200-3956200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:3954200-3956200	Enhancers	K562	blood
33	chr11:3954200-3957000	Genic enhancers	Primary T cells from cord blood	blood
34	chr11:3954400-3956800	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:3954400-3957200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:3954600-3956800	Enhancers	Fetal Heart	heart
37	chr11:3954600-3957800	Enhancers	HepG2	liver
38	chr11:3954600-3958400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:3954600-3958400	Enhancers	Thymus	Thymus
40	chr11:3954600-3959200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:3954800-3956200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:3954800-3958200	Genic enhancers	Fetal Thymus	thymus
43	chr11:3954800-3958400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:3954800-3963200	Weak transcription	Liver	Liver
45	chr11:3955000-3956200	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:3955000-3956200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr11:3955000-3957600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:3955000-3958600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:3955000-3960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:3955200-3956800	Weak transcription	Primary B cells from cord blood	blood

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