Variant report

Variant	rs4755346
Chromosome Location	chr11:45917780-45917781
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	TBP	chr11:45917725-45918479	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45889972..45892712-chr11:45915582..45918547,2	K562	blood:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11038704	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2280329	0.86[ASN][1000 genomes]
rs3789023	0.89[EUR][1000 genomes]
rs7114162	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45907600-45920800	Weak transcription	Right Atrium	heart
2	chr11:45914000-45920400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:45915200-45918000	Weak transcription	Liver	Liver
4	chr11:45916000-45917800	Enhancers	Brain Hippocampus Middle	brain
5	chr11:45916200-45918000	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:45916200-45918000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:45916400-45918600	Enhancers	Fetal Brain Male	brain
8	chr11:45916600-45920200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:45917200-45919400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:45917400-45917800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:45917400-45917800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:45917400-45917800	Enhancers	Brain Angular Gyrus	brain
13	chr11:45917400-45917800	Enhancers	Brain Germinal Matrix	brain
14	chr11:45917400-45918000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:45917400-45918200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:45917400-45918200	Enhancers	Brain Anterior Caudate	brain
17	chr11:45917400-45918200	Flanking Active TSS	Fetal Brain Female	brain
18	chr11:45917400-45918600	Bivalent Enhancer	Placenta	Placenta
19	chr11:45917400-45918800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:45917400-45918800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:45917400-45918800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:45917400-45918800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr11:45917400-45919200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr11:45917400-45919400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:45917600-45917800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:45917600-45917800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:45917600-45917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:45917600-45917800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:45917600-45917800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:45917600-45918000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:45917600-45918200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:45917600-45918200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr11:45917600-45918200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr11:45917600-45918400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:45917600-45918600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:45917600-45918600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:45917600-45918600	Enhancers	HSMMtube	muscle
38	chr11:45917600-45918800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:45917600-45918800	Enhancers	Brain Substantia Nigra	brain
40	chr11:45917600-45918800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr11:45917600-45919000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:45917600-45920800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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