Variant report

Variant	rs11039301
Chromosome Location	chr11:47590188-47590189
allele	C/T
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	POLR2A	chr11:47589974-47590205	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10769257	1.00[AMR][1000 genomes]
rs11039310	1.00[AMR][1000 genomes]
rs11570040	1.00[AMR][1000 genomes]
rs12270340	1.00[AMR][1000 genomes]
rs12273492	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294436	1.00[AMR][1000 genomes]
rs28669153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47587800-47591400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47588000-47590400	Weak transcription	Brain Germinal Matrix	brain
3	chr11:47588000-47591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:47588000-47591200	Weak transcription	Aorta	Aorta
5	chr11:47588000-47591200	Weak transcription	Left Ventricle	heart
6	chr11:47588000-47591200	Weak transcription	Lung	lung
7	chr11:47588000-47591200	Weak transcription	Ovary	ovary
8	chr11:47588000-47591200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:47588000-47592200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:47588000-47592800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:47588000-47592800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:47588000-47592800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:47588000-47593000	Weak transcription	Gastric	stomach
14	chr11:47588000-47593000	Weak transcription	Pancreas	Pancrea
15	chr11:47588000-47593600	Weak transcription	Psoas Muscle	Psoas
16	chr11:47588000-47594000	Weak transcription	Colonic Mucosa	Colon
17	chr11:47588000-47594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:47588000-47594200	Weak transcription	Esophagus	oesophagus
19	chr11:47588000-47594400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:47588000-47594600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:47588200-47590600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:47588200-47591000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:47588200-47591000	Weak transcription	NH-A	brain
26	chr11:47588200-47591200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:47588200-47591200	Weak transcription	HSMM	muscle
28	chr11:47588200-47591200	Weak transcription	HSMMtube	muscle
29	chr11:47588200-47592400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:47588200-47592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:47588200-47594200	Weak transcription	Right Ventricle	heart
32	chr11:47588200-47594800	Weak transcription	Small Intestine	intestine
33	chr11:47588400-47591000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:47588400-47591000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:47588400-47591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:47588400-47591000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr11:47588400-47591000	Weak transcription	Primary T cells from cord blood	blood
38	chr11:47588400-47591000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:47588400-47591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:47588400-47591000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:47588400-47591000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:47588400-47591000	Weak transcription	NHDF-Ad	bronchial
43	chr11:47588400-47591200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:47588400-47591200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:47588400-47591200	Weak transcription	Spleen	Spleen
46	chr11:47588400-47591200	Weak transcription	NHLF	lung
47	chr11:47588400-47591400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:47588400-47591400	Weak transcription	Thymus	Thymus
49	chr11:47588400-47591800	Weak transcription	Adipose Nuclei	Adipose
50	chr11:47588400-47592000	Weak transcription	Brain Anterior Caudate	brain

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