Variant report

Variant	rs17884545
Chromosome Location	chr11:64970015-64970016
allele	A/G
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	chr11:64957883-64971312	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64881531..64883616-chr11:64967521..64970202,2	K562	blood:
2	chr11:64881095..64883616-chr11:64967076..64970202,3	K562	blood:

Variant related genes	Relation type
CAPN1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17880641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881255	1.00[AMR][1000 genomes]
rs17886562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480936	1.00[AMR][1000 genomes]
rs73480945	1.00[AMR][1000 genomes]
rs9333584	1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64950400-64973200	Weak transcription	Fetal Kidney	kidney
2	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
3	chr11:64951000-64973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64951000-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:64951200-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:64951400-64979200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:64951600-64976400	Weak transcription	Fetal Brain Male	brain
8	chr11:64951600-64979600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:64952400-64972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64952400-64980200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:64952400-64992800	Weak transcription	Fetal Heart	heart
12	chr11:64952800-64978000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:64953600-64971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:64953600-64978600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:64954600-64973400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:64955200-64973000	Weak transcription	Stomach Mucosa	stomach
17	chr11:64957400-64973200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:64957600-64973000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:64957600-64975600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:64958000-64972200	Weak transcription	HepG2	liver
21	chr11:64958000-64972400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:64958000-64972600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:64958000-64972600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:64958000-64973200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:64958000-64973800	Weak transcription	Psoas Muscle	Psoas
26	chr11:64958200-64971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:64958200-64971600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:64958200-64972000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:64958400-64971400	Weak transcription	Pancreas	Pancrea
30	chr11:64958400-64971400	Weak transcription	NHLF	lung
31	chr11:64958600-64970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:64958600-64973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:64958800-64970400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:64959800-64972600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:64960000-64972600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:64960200-64971400	Weak transcription	HSMMtube	muscle
37	chr11:64960400-64971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:64961200-64972000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:64961800-64972000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:64962400-64971800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:64962400-64972600	Weak transcription	Hela-S3	cervix
42	chr11:64962400-64972800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:64962600-64970200	Weak transcription	Fetal Brain Female	brain
44	chr11:64962600-64972600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:64962800-64976800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:64963000-64971600	Weak transcription	Esophagus	oesophagus
47	chr11:64963000-64973400	Weak transcription	Small Intestine	intestine
48	chr11:64963000-64975400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:64963200-64974200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:64963400-64970200	Weak transcription	Ovary	ovary

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