Variant report

Variant	rs78028320
Chromosome Location	chr11:65582015-65582016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65581685..65583304-chr11:65617806..65620424,2	K562	blood:
2	chr11:65478545..65480945-chr11:65580447..65582951,3	MCF-7	breast:
3	chr11:65545925..65552801-chr11:65581920..65586715,7	K562	blood:
4	chr11:65581685..65586123-chr11:65617566..65620999,8	K562	blood:
5	chr11:65477139..65479296-chr11:65581106..65583170,2	K562	blood:
6	chr11:65581063..65583136-chr14:59275828..59277328,2	MCF-7	breast:
7	chr11:65484062..65489605-chr11:65581322..65585682,6	MCF-7	breast:
8	chr11:65477796..65479455-chr11:65581611..65583170,2	K562	blood:
9	chr11:65552345..65559376-chr11:65580965..65587386,14	MCF-7	breast:
10	chr11:65479454..65481331-chr11:65581878..65583711,2	MCF-7	breast:
11	chr11:65580481..65582382-chr11:65594017..65596909,2	K562	blood:
12	chr11:65581575..65585638-chr11:65589269..65592512,3	K562	blood:
13	chr11:65581909..65583491-chr11:65584242..65587282,3	K562	blood:
14	chr11:65581388..65588369-chr11:65620968..65629930,12	MCF-7	breast:
15	chr11:65546140..65552176-chr11:65581336..65587164,12	MCF-7	breast:
16	chr11:65580305..65583287-chr11:65625936..65628715,2	K562	blood:
17	chr11:65581909..65583782-chr11:65584242..65586830,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254470	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172818	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 10 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	esv998472	chr11:65581362-65585126	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs78028320	SNX32	cis	Nerve Tibial	GTEx
rs78028320	SNX32	cis	Skin Sun Exposed Lower leg	GTEx
rs78028320	SNX32	cis	Esophagus Mucosa	GTEx
rs78028320	SNX32	cis	Stomach	GTEx
rs78028320	SNX32	cis	Thyroid	GTEx
rs78028320	SNX32	cis	Artery Aorta	GTEx
rs78028320	CTSW	cis	Esophagus Mucosa	GTEx
rs78028320	SNX32	cis	Esophagus Muscularis	GTEx
rs78028320	SNX32	cis	Adipose Subcutaneous	GTEx
rs78028320	SNX32	cis	Artery Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65575400-65583800	Weak transcription	Brain Substantia Nigra	brain
2	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
3	chr11:65577800-65583200	Enhancers	Adipose Nuclei	Adipose
4	chr11:65577800-65584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:65578000-65582200	Weak transcription	Left Ventricle	heart
6	chr11:65578000-65584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:65578200-65582400	Weak transcription	Esophagus	oesophagus
8	chr11:65578200-65584400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:65578200-65585200	Weak transcription	Right Ventricle	heart
10	chr11:65578200-65585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:65578200-65585400	Weak transcription	Gastric	stomach
12	chr11:65578600-65585000	Enhancers	Placenta	Placenta
13	chr11:65578800-65584400	Weak transcription	Lung	lung
14	chr11:65579200-65584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:65579400-65585000	Weak transcription	Primary T cells from cord blood	blood
16	chr11:65579600-65585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:65579800-65583800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:65579800-65584000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:65580000-65584400	Weak transcription	Liver	Liver
20	chr11:65580000-65584400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:65580000-65584600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:65580200-65585000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:65580400-65582400	Weak transcription	Aorta	Aorta
24	chr11:65580600-65585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:65580800-65582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:65581200-65582600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:65581200-65584400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:65581200-65585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:65581400-65582400	Enhancers	Fetal Intestine Small	intestine
30	chr11:65581400-65582400	Enhancers	Hela-S3	cervix
31	chr11:65581400-65583200	Enhancers	NHEK	skin
32	chr11:65581400-65583400	Enhancers	Fetal Intestine Large	intestine
33	chr11:65581600-65582200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:65581600-65582400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65581600-65582600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr11:65581600-65582800	Enhancers	Pancreas	Pancrea
37	chr11:65581600-65582800	Enhancers	Stomach Mucosa	stomach
38	chr11:65581600-65582800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:65581600-65582800	Enhancers	NHDF-Ad	bronchial
40	chr11:65581600-65584000	Weak transcription	Dnd41	blood
41	chr11:65581600-65584200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:65581600-65584600	Weak transcription	Brain Anterior Caudate	brain
43	chr11:65581800-65582200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:65581800-65582200	Flanking Active TSS	Osteobl	bone
45	chr11:65581800-65582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:65581800-65582600	Enhancers	Right Atrium	heart
47	chr11:65581800-65583000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:65581800-65583200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:65581800-65584400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:65582000-65582200	Enhancers	HSMMtube	muscle

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