Variant report

Variant	rs12794118
Chromosome Location	chr11:107249363-107249364
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12276737	0.85[ASN][1000 genomes]
rs34515580	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34785071	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35425860	0.80[AMR][1000 genomes]
rs35576861	0.80[AMR][1000 genomes]
rs35784604	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123986	0.80[AMR][1000 genomes]
rs715415	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898364	chr11:106944975-107285636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv898374	chr11:107156880-107263130	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv475	chr11:107211800-107255722	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv75	chr11:107219624-107251780	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv508655	chr11:107222641-107257485	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1810653	chr11:107222904-107250851	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv8872	chr11:107228364-107249620	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv971960	chr11:107228453-107250916	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1823282	chr11:107231605-107250851	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1805814	chr11:107238644-107252350	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv15462	chr11:107238737-107249703	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv511483	chr11:107239106-107249735	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1792866	chr11:107239106-107250851	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1804321	chr11:107239106-107250851	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1819999	chr11:107239106-107250851	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1832570	chr11:107239106-107250851	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1844865	chr11:107239106-107250851	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv556308	chr11:107239106-107250851	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv1812015	chr11:107239106-107257165	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv1807497	chr11:107239127-107249595	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1823024	chr11:107239127-107249595	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1831640	chr11:107239127-107249595	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1849158	chr11:107239127-107249595	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv1809709	chr11:107239127-107250218	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv1820067	chr11:107239127-107250218	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv1825949	chr11:107239127-107250218	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv1850093	chr11:107239127-107250218	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv2519079	chr11:107239175-107249594	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv556321	chr11:107239227-107250851	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1806682	chr11:107239393-107249735	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv556337	chr11:107239806-107255940	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv556350	chr11:107240249-107250851	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107195000-107299200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:107219800-107256400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:107221800-107258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:107223000-107253000	Weak transcription	Liver	Liver
5	chr11:107223000-107253600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:107223000-107256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:107223000-107260600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:107223000-107260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:107224000-107258400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:107224600-107249600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:107224600-107253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:107225800-107250000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:107225800-107256400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:107230000-107253400	Weak transcription	Lung	lung
15	chr11:107230200-107261400	Weak transcription	Ovary	ovary
16	chr11:107232200-107249600	Weak transcription	Primary T cells from cord blood	blood
17	chr11:107232400-107257800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:107239400-107253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:107240600-107261800	Weak transcription	Fetal Lung	lung
20	chr11:107241000-107253000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:107241600-107261200	Weak transcription	Fetal Kidney	kidney
22	chr11:107241600-107327800	Weak transcription	HSMMtube	muscle
23	chr11:107243400-107254600	Weak transcription	NHEK	skin
24	chr11:107243800-107267600	Weak transcription	Gastric	stomach
25	chr11:107244200-107254400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:107245000-107249600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:107245200-107256400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:107247200-107254600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:107247600-107259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:107248000-107260000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:107248600-107255800	Weak transcription	HepG2	liver
32	chr11:107248600-107260800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:107248600-107261400	Weak transcription	Thymus	Thymus
34	chr11:107248800-107252800	Weak transcription	Primary B cells from cord blood	blood
35	chr11:107249000-107261000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:107249000-107267600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:107249200-107249400	Weak transcription	Dnd41	blood
38	chr11:107249200-107260000	Weak transcription	Duodenum Mucosa	Duodenum

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