Variant report

Variant	rs73454096
Chromosome Location	chr11:46776132-46776133
allele	G/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	chr11:46776002-46776683	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46774947..46777617-chr11:46782047..46783769,2	K562	blood:
2	chr11:46775438..46777025-chr11:46785365..46787825,2	K562	blood:

Variant related genes	Relation type
CKAP5	TF binding region
MIR5582	TF binding region
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73449978	1.00[AFR][1000 genomes]
rs73454020	1.00[AFR][1000 genomes]
rs73454028	1.00[AFR][1000 genomes]
rs73454083	1.00[AFR][1000 genomes]
rs73456128	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
2	chr11:46760200-46786800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:46760200-46794800	Strong transcription	A549	lung
4	chr11:46760400-46777400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:46760400-46781400	Weak transcription	Stomach Mucosa	stomach
6	chr11:46760400-46795600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:46760600-46785800	Strong transcription	Fetal Stomach	stomach
8	chr11:46760600-46793800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:46761200-46787000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:46761200-46787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:46761400-46786600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:46761400-46795800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:46761600-46776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:46761600-46787000	Strong transcription	Fetal Intestine Large	intestine
17	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
18	chr11:46762200-46776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:46762400-46787000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:46762400-46794200	Strong transcription	Adipose Nuclei	Adipose
21	chr11:46762600-46776600	Strong transcription	Brain Germinal Matrix	brain
22	chr11:46762600-46778600	Strong transcription	HSMM	muscle
23	chr11:46762600-46785600	Strong transcription	Thymus	Thymus
24	chr11:46762600-46786400	Strong transcription	Fetal Brain Female	brain
25	chr11:46762600-46786600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:46762600-46786800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:46762600-46786800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:46762600-46787000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:46762600-46793200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:46762600-46794800	Strong transcription	Placenta	Placenta
31	chr11:46762600-46795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:46762600-46795200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:46762600-46795800	Strong transcription	Dnd41	blood
34	chr11:46762600-46804000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:46762800-46776600	Strong transcription	Left Ventricle	heart
38	chr11:46762800-46776600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:46762800-46777200	Strong transcription	Lung	lung
40	chr11:46762800-46778400	Strong transcription	Primary B cells from cord blood	blood
41	chr11:46762800-46786000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:46762800-46786000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:46762800-46786000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:46762800-46786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:46762800-46786800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:46762800-46786800	Strong transcription	Fetal Lung	lung
47	chr11:46762800-46787000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:46762800-46792600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:46762800-46794200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:46762800-46794400	Strong transcription	HMEC	breast

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