Variant report

Variant	rs72758323
Chromosome Location	chr15:83869673-83869674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83724654..83727427-chr15:83867901..83870152,2	K562	blood:
2	chr15:83867331..83869104-chr15:83869215..83870770,2	K562	blood:
3	chr15:83866579..83871719-chr15:83871897..83878518,11	K562	blood:

Variant related genes	Relation type
ENSG00000166503	Chromatin interaction
ENSG00000064726	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12101636	0.98[EUR][1000 genomes]
rs17158059	1.00[EUR][1000 genomes]
rs17841157	1.00[EUR][1000 genomes]
rs28360733	0.87[EUR][1000 genomes]
rs28479708	1.00[EUR][1000 genomes]
rs28523446	0.92[EUR][1000 genomes]
rs28558700	0.92[EUR][1000 genomes]
rs28567531	0.88[EUR][1000 genomes]
rs7167364	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7171743	0.92[EUR][1000 genomes]
rs7173876	0.94[EUR][1000 genomes]
rs72755935	0.86[AMR][1000 genomes]
rs72755947	0.86[AMR][1000 genomes]
rs72755959	0.84[AMR][1000 genomes]
rs72755962	0.86[AMR][1000 genomes]
rs72755995	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72756000	0.85[AMR][1000 genomes]
rs72758306	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72758308	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72758310	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72758313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72758331	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72758346	0.85[AMR][1000 genomes]
rs72758350	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8026576	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:83841200-83872600	Weak transcription	Brain Germinal Matrix	brain
4	chr15:83841800-83870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:83847400-83873400	Weak transcription	Fetal Kidney	kidney
6	chr15:83861000-83873600	Weak transcription	Left Ventricle	heart
7	chr15:83861000-83873600	Weak transcription	Right Atrium	heart
8	chr15:83861800-83870400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:83861800-83871600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:83862800-83875200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:83863200-83870400	Weak transcription	A549	lung
12	chr15:83863200-83871600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:83863600-83872600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:83863600-83873400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:83863600-83874400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:83864000-83873000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:83864000-83873400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:83864800-83870200	Weak transcription	HUVEC	blood vessel
19	chr15:83864800-83872600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:83864800-83872600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:83865800-83871800	Weak transcription	Fetal Brain Male	brain
22	chr15:83866000-83870400	Weak transcription	NHEK	skin
23	chr15:83866000-83873400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:83866000-83873400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:83866600-83871000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:83867600-83870400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:83867600-83873200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:83867800-83870600	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:83867800-83873000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:83867800-83873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:83867800-83874800	Weak transcription	Ovary	ovary
32	chr15:83868000-83870400	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:83868200-83872400	Weak transcription	Fetal Brain Female	brain
34	chr15:83868200-83874600	Weak transcription	Primary T cells from cord blood	blood
35	chr15:83869000-83871200	Enhancers	HSMM	muscle
36	chr15:83869000-83871800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr15:83869200-83869800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:83869200-83870000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:83869200-83871800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:83869200-83871800	Enhancers	HSMMtube	muscle
41	chr15:83869200-83872000	Enhancers	Osteobl	bone
42	chr15:83869200-83872200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:83869400-83869800	Active TSS	GM12878-XiMat	blood
44	chr15:83869600-83869800	Enhancers	NH-A	brain
45	chr15:83869600-83870400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:83869600-83870400	Weak transcription	HMEC	breast
47	chr15:83869600-83870400	Weak transcription	NHDF-Ad	bronchial
48	chr15:83869600-83870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:83869600-83872800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:83869600-83873000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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