Variant report

Variant	rs11030106
Chromosome Location	chr11:3881730-3881731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr11:3881463-3881764	HepG2	liver:	n/a	chr11:3881611-3881626
2	FAM48A	chr11:3881597-3881752	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr11:3880703-3882331	K562	blood:	n/a	n/a
4	FOXA1	chr11:3881393-3881747	HepG2	liver:	n/a	chr11:3881611-3881626

No.	Distal block	Cell Line	Cell type
1	chr11:3880710..3882363-chr11:4111617..4114224,2	K562	blood:
2	chr11:3880298..3882156-chr11:3929385..3931487,2	K562	blood:
3	chr11:3880021..3883743-chr11:3910117..3913050,3	K562	blood:

Variant related genes	Relation type
ENSG00000228661	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10160703	1.00[YRI][hapmap]
rs12280056	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120945	0.98[ASN][1000 genomes]
rs72847156	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	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
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
14	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11030106	TRIM22	cis	parietal	SCAN
rs11030106	OR51G2	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3877400-3882600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr11:3877600-3883800	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr11:3878000-3882400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:3878000-3883000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:3878000-3883200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr11:3878000-3883200	Enhancers	Fetal Heart	heart
7	chr11:3878200-3886800	Weak transcription	NHLF	lung
8	chr11:3878400-3883200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr11:3878600-3882400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:3878800-3882400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr11:3878800-3882400	Flanking Active TSS	GM12878-XiMat	blood
12	chr11:3878800-3883200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:3879000-3882200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:3879000-3883800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:3879200-3883400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:3879200-3883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:3879200-3883400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:3879200-3883400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:3879400-3882200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:3879400-3883200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:3879400-3886600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:3879400-3887200	Weak transcription	Fetal Brain Female	brain
23	chr11:3879600-3882400	Flanking Active TSS	K562	blood
24	chr11:3879600-3883600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:3879800-3882200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:3879800-3883800	Enhancers	Fetal Muscle Leg	muscle
27	chr11:3880000-3882000	Enhancers	A549	lung
28	chr11:3880200-3882400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:3880400-3882000	Enhancers	NH-A	brain
30	chr11:3880400-3882200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr11:3880400-3883000	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:3880600-3882200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:3880600-3882400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:3880600-3886800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:3880800-3882400	Enhancers	Brain Angular Gyrus	brain
36	chr11:3881000-3882000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:3881000-3882000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:3881000-3882200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:3881000-3882400	Enhancers	Fetal Stomach	stomach
40	chr11:3881000-3882400	Enhancers	Stomach Mucosa	stomach
41	chr11:3881000-3882600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:3881000-3882800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:3881000-3882800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:3881000-3883000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:3881000-3883200	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:3881000-3883400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:3881000-3883800	Enhancers	HepG2	liver
48	chr11:3881000-3884000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:3881000-3884200	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:3881000-3885200	Weak transcription	Aorta	Aorta

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