Variant report

Variant	rs72700845
Chromosome Location	chr1:150568749-150568750
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150548916..150554244-chr1:150567107..150572261,6	K562	blood:
2	chr1:150545934..150547649-chr1:150567302..150569853,2	K562	blood:
3	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
4	chr1:150540972..150543732-chr1:150565800..150568772,3	MCF-7	breast:
5	chr1:150567222..150571077-chr1:150576959..150580795,4	K562	blood:
6	chr1:150567570..150570459-chr1:150574436..150576369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264584	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11580946	1.00[AMR][1000 genomes]
rs11582333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34647563	1.00[AMR][1000 genomes]
rs56404059	1.00[EUR][1000 genomes]
rs6668850	1.00[AMR][1000 genomes]
rs72700851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704611	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv535157	chr1:150552692-150575941	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv946384	chr1:150567346-150579087	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150553000-150572800	Weak transcription	Thymus	Thymus
2	chr1:150553000-150583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:150553200-150569400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:150553200-150569400	Weak transcription	Fetal Thymus	thymus
5	chr1:150553200-150572600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:150553200-150572600	Weak transcription	Fetal Brain Female	brain
7	chr1:150553200-150572800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:150553200-150577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:150553200-150581800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:150553200-150581800	Weak transcription	Dnd41	blood
11	chr1:150553200-150583200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:150553200-150592000	Weak transcription	Fetal Kidney	kidney
13	chr1:150553800-150572600	Weak transcription	Lung	lung
14	chr1:150553800-150576800	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:150554000-150572000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:150554000-150583200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:150554400-150572600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:150555400-150572600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:150555400-150582600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:150560200-150576000	Weak transcription	Ovary	ovary
21	chr1:150561200-150572400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:150561400-150577000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:150561800-150581800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:150562200-150583200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:150563000-150572400	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:150563000-150583800	Weak transcription	Fetal Lung	lung
27	chr1:150564000-150576200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:150564400-150583800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:150564800-150569200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:150565000-150572600	Weak transcription	Brain Germinal Matrix	brain
31	chr1:150565400-150572000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:150565400-150572600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:150565600-150572600	Weak transcription	Placenta	Placenta
34	chr1:150565800-150569400	Weak transcription	Stomach Mucosa	stomach
35	chr1:150566200-150571800	Weak transcription	Fetal Stomach	stomach
36	chr1:150566200-150572000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:150566200-150572400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:150566200-150572600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:150566200-150575800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:150566200-150575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:150566200-150576200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:150566400-150572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:150566400-150575800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:150566400-150583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:150566600-150577000	Weak transcription	Aorta	Aorta
46	chr1:150566800-150572600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:150566800-150577000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:150567400-150569000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:150567600-150569800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:150567600-150569800	Enhancers	Rectal Mucosa Donor 31	rectum

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