Variant report

Variant	rs515555
Chromosome Location	chr11:107391023-107391024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1728908	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs484092	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513550	0.84[ASN][1000 genomes]
rs519800	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs536079	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs546646	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567102	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs569976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs583790	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633525	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs635386	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs636820	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[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs639556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643387	1.00[ASW][hapmap]
rs659571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs666373	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs668143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs684209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7125903	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107364000-107394000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:107369200-107406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:107371200-107393000	Weak transcription	Brain Substantia Nigra	brain
5	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
6	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
7	chr11:107372800-107409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
9	chr11:107373000-107414800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:107373000-107415200	Weak transcription	Osteobl	bone
11	chr11:107373000-107421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:107373000-107421400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:107373200-107393000	Weak transcription	Fetal Stomach	stomach
14	chr11:107373200-107396200	Weak transcription	Small Intestine	intestine
15	chr11:107373200-107405800	Weak transcription	NHEK	skin
16	chr11:107373200-107407400	Weak transcription	Esophagus	oesophagus
17	chr11:107373200-107421000	Weak transcription	Spleen	Spleen
18	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:107373400-107407400	Weak transcription	GM12878-XiMat	blood
20	chr11:107373800-107409200	Weak transcription	HepG2	liver
21	chr11:107375600-107393000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:107375600-107414600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:107375800-107392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:107375800-107392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:107375800-107393000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:107375800-107395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:107375800-107396800	Weak transcription	HSMM	muscle
28	chr11:107375800-107402400	Weak transcription	Fetal Thymus	thymus
29	chr11:107375800-107407000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:107376000-107392200	Weak transcription	Fetal Intestine Large	intestine
31	chr11:107376000-107402000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:107376000-107402400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:107376000-107407400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:107376000-107415600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:107376000-107421000	Weak transcription	Thymus	Thymus
36	chr11:107376600-107393000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:107376600-107415400	Weak transcription	Ovary	ovary
38	chr11:107376600-107434600	Weak transcription	Lung	lung
39	chr11:107376800-107401800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:107376800-107406200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:107376800-107406400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:107376800-107421000	Weak transcription	Aorta	Aorta
43	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
44	chr11:107377000-107432600	Weak transcription	K562	blood
45	chr11:107377200-107394200	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
47	chr11:107379600-107393000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:107381400-107414800	Weak transcription	NH-A	brain
49	chr11:107381600-107396600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:107381800-107392000	Weak transcription	Primary monocytes fromperipheralblood	blood

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