Variant report

Variant	rs73388599
Chromosome Location	chr15:40298693-40298694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40292548..40296110-chr15:40298332..40301234,3	MCF-7	breast:
2	chr15:40298344..40301416-chr15:40301648..40304008,4	K562	blood:

Variant related genes	Relation type
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs537600	1.00[AMR][1000 genomes]
rs58164715	1.00[AMR][1000 genomes]
rs60196164	1.00[AMR][1000 genomes]
rs60219486	1.00[AMR][1000 genomes]
rs73388567	1.00[AMR][1000 genomes]
rs73388583	1.00[AMR][1000 genomes]
rs73388590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388595	1.00[AMR][1000 genomes]
rs73388598	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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
3	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:40277600-40303600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:40277600-40303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:40277600-40304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:40277800-40303800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:40277800-40304400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr15:40277800-40304800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:40277800-40305000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:40277800-40305000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:40277800-40305400	Strong transcription	Fetal Muscle Leg	muscle
15	chr15:40277800-40305600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr15:40278000-40305400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:40282800-40299000	Weak transcription	K562	blood
18	chr15:40291600-40301200	Strong transcription	Primary B cells from cord blood	blood
19	chr15:40291600-40305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:40291800-40305200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:40291800-40305800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:40292000-40306600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:40292200-40301200	Strong transcription	NHDF-Ad	bronchial
24	chr15:40292400-40305800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:40292600-40306400	Strong transcription	Primary T cells from cord blood	blood
26	chr15:40292800-40300400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:40292800-40302400	Strong transcription	Brain Hippocampus Middle	brain
28	chr15:40292800-40306400	Strong transcription	Adipose Nuclei	Adipose
29	chr15:40293000-40301200	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr15:40293000-40302400	Strong transcription	Brain Anterior Caudate	brain
31	chr15:40293000-40306600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr15:40293000-40306800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:40293000-40315000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr15:40293200-40300400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:40293200-40301400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:40293200-40301600	Strong transcription	Colon Smooth Muscle	Colon
37	chr15:40293200-40302600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:40293200-40305400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:40293200-40306000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:40293200-40306200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:40293400-40305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:40293600-40300400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:40294400-40305800	Strong transcription	Fetal Thymus	thymus
44	chr15:40294400-40306400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr15:40294600-40301800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:40294800-40301400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:40294800-40304000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:40294800-40304200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:40295000-40303000	Strong transcription	HMEC	breast
50	chr15:40295000-40303800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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