Variant report

Variant	rs1147013
Chromosome Location	chr11:104576373-104576374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1120720	0.81[AFR][1000 genomes]
rs1147011	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1147016	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1147021	1.00[AFR][1000 genomes]
rs1147025	0.87[AFR][1000 genomes]
rs1147026	0.94[AFR][1000 genomes]
rs1147048	0.88[AFR][1000 genomes]
rs1200642	0.94[AFR][1000 genomes]
rs1200654	0.81[AFR][1000 genomes]
rs1200655	0.94[AFR][1000 genomes]
rs2845896	0.94[AFR][1000 genomes]
rs2845899	0.94[AFR][1000 genomes]
rs2845906	0.94[AFR][1000 genomes]
rs2845907	0.94[AFR][1000 genomes]
rs2849199	1.00[AFR][1000 genomes]
rs58022066	0.94[AFR][1000 genomes]
rs890449	0.89[AFR][1000 genomes]
rs890450	1.00[AFR][1000 genomes]
rs991272	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv832254	chr11:104412769-104607277	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2761706	chr11:104523335-104634024	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1050346	chr11:104548749-104664665	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104572000-104576400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:104572000-104576600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:104572000-104576800	Weak transcription	NHLF	lung
4	chr11:104572200-104576400	Weak transcription	NH-A	brain
5	chr11:104574800-104576400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:104575200-104576400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:104575200-104576400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:104575200-104576800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:104575400-104576600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:104575400-104576600	Enhancers	Adipose Nuclei	Adipose
11	chr11:104575400-104577000	Flanking Active TSS	Dnd41	blood
12	chr11:104575400-104577400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:104575600-104576400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr11:104575600-104576400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr11:104575600-104576600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:104575600-104576600	Enhancers	Fetal Stomach	stomach
17	chr11:104575600-104576800	Enhancers	Fetal Thymus	thymus
18	chr11:104575600-104577200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:104575800-104576400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:104575800-104576400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:104575800-104576600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr11:104575800-104576800	Flanking Active TSS	HUVEC	blood vessel
23	chr11:104575800-104577200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:104575800-104577200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:104576000-104576400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr11:104576000-104576400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:104576000-104576400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:104576000-104576400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:104576000-104576400	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:104576000-104576400	Flanking Active TSS	GM12878-XiMat	blood
31	chr11:104576000-104576600	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:104576000-104576800	Enhancers	Brain Hippocampus Middle	brain
33	chr11:104576000-104576800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:104576200-104576400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:104576200-104576400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:104576200-104576600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:104576200-104576800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:104576200-104576800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr11:104576200-104576800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:104576200-104577000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:104576200-104577000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:104576200-104577200	Active TSS	Primary T cells fromperipheralblood	blood
43	chr11:104576200-104577200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:104576200-104577200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:104576200-104577200	Enhancers	Fetal Lung	lung
46	chr11:104576200-104577200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:104576200-104577600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:104576200-104577600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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