Variant report

Variant	rs28493109
Chromosome Location	chr14:65431956-65431957
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65424121..65427590-chr14:65430879..65434090,3	MCF-7	breast:
2	chr14:65428039..65432050-chr14:65432116..65435145,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139998	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10121	0.90[EUR][1000 genomes]
rs11540871	0.89[EUR][1000 genomes]
rs57319601	0.90[EUR][1000 genomes]
rs57674166	0.90[EUR][1000 genomes]
rs61538903	0.89[EUR][1000 genomes]
rs73281764	0.90[EUR][1000 genomes]
rs73281765	0.90[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	esv33119	chr14:65421491-65434429	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28493109	RAB15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65401400-65432200	Weak transcription	HUVEC	blood vessel
2	chr14:65401600-65435000	Weak transcription	NH-A	brain
3	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
4	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
5	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
8	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
9	chr14:65415400-65432400	Weak transcription	Ovary	ovary
10	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
11	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
12	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
13	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:65419000-65432600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:65419000-65433400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:65419200-65433400	Weak transcription	Lung	lung
21	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:65420800-65437400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:65422800-65437600	Weak transcription	Spleen	Spleen
27	chr14:65423400-65436800	Weak transcription	Dnd41	blood
28	chr14:65424000-65436800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:65426000-65438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:65427800-65432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:65427800-65435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:65427800-65435000	Weak transcription	HSMM	muscle
33	chr14:65427800-65435200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:65427800-65437000	Weak transcription	Thymus	Thymus
35	chr14:65427800-65437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:65428000-65432200	Weak transcription	Primary T cells from cord blood	blood
37	chr14:65428000-65432400	Weak transcription	Fetal Heart	heart
38	chr14:65428000-65433400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:65428000-65433400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:65428000-65433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:65428000-65433600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:65428000-65433600	Weak transcription	Pancreas	Pancrea
43	chr14:65428000-65434400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:65428000-65434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:65428000-65434600	Weak transcription	Brain Germinal Matrix	brain
46	chr14:65428000-65435000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:65428000-65435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:65428000-65435200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:65428000-65435200	Weak transcription	A549	lung
50	chr14:65428000-65435400	Weak transcription	Fetal Thymus	thymus

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