Variant report

Variant	rs656338
Chromosome Location	chr11:121365860-121365861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12364988	0.81[EUR][1000 genomes]
rs12798073	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784927	0.86[EUR][1000 genomes]
rs523917	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550469	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs560573	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs593769	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs596437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs599161	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs624310	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs633197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs641120	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs652067	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs662821	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs668387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs676759	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs681970	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs687228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs689021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs693855	0.92[ASN][1000 genomes]
rs923892	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs923893	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv522474	chr11:121356968-121436270	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121349800-121393000	Weak transcription	Colonic Mucosa	Colon
2	chr11:121350000-121401400	Weak transcription	Fetal Brain Male	brain
3	chr11:121350200-121367800	Weak transcription	Fetal Kidney	kidney
4	chr11:121350400-121393200	Weak transcription	Gastric	stomach
5	chr11:121350800-121368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:121351200-121366600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:121351400-121384600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:121352800-121377600	Strong transcription	HepG2	liver
9	chr11:121353600-121367200	Weak transcription	Fetal Lung	lung
10	chr11:121353600-121377000	Weak transcription	Pancreas	Pancrea
11	chr11:121353800-121374200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:121358800-121366800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:121358800-121367400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:121359000-121367800	Weak transcription	Brain Substantia Nigra	brain
15	chr11:121359200-121367600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:121359200-121367600	Weak transcription	Ovary	ovary
17	chr11:121359200-121367800	Weak transcription	Aorta	Aorta
18	chr11:121359200-121369800	Weak transcription	Left Ventricle	heart
19	chr11:121359200-121384200	Weak transcription	Fetal Stomach	stomach
20	chr11:121359400-121367400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:121359400-121367600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:121359600-121367800	Weak transcription	Spleen	Spleen
23	chr11:121359800-121377000	Weak transcription	Esophagus	oesophagus
24	chr11:121360600-121367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:121360600-121368400	Weak transcription	Brain Germinal Matrix	brain
26	chr11:121360800-121367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:121360800-121369800	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:121360800-121384400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:121362000-121367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:121362400-121366800	Weak transcription	Fetal Brain Female	brain
31	chr11:121362800-121367800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:121362800-121368000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:121364000-121375800	Strong transcription	Liver	Liver
34	chr11:121364200-121366400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:121364200-121366600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:121364400-121366400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:121364400-121366400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:121364600-121366000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:121364600-121366400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:121364800-121366000	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:121364800-121366200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:121365000-121366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:121365000-121366000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:121365000-121366000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:121365000-121366000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:121365000-121366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:121365000-121366000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:121365000-121366000	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:121365000-121366400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:121365000-121366800	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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