Variant report

Variant	rs4832280
Chromosome Location	chr2:86595367-86595368
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86525475..86526402-chr2:86594830..86595950,4	MCF-7	breast:
2	chr2:86448891..86450074-chr2:86594892..86595864,3	MCF-7	breast:
3	chr2:86446503..86449677-chr2:86593387..86596210,3	MCF-7	breast:
4	chr2:86447923..86448691-chr2:86595098..86596037,5	MCF-7	breast:
5	chr2:86420778..86424048-chr2:86595325..86598515,3	MCF-7	breast:
6	chr2:86525581..86526450-chr2:86595097..86596076,7	MCF-7	breast:
7	chr2:86448013..86448886-chr2:86595182..86595832,4	MCF-7	breast:
8	chr2:86572451..86574129-chr2:86595066..86597224,2	K562	blood:
9	chr2:86594067..86596122-chr2:86600316..86602892,2	MCF-7	breast:
10	chr2:86447946..86448869-chr2:86595119..86595787,5	K562	blood:
11	chr2:86593659..86596612-chr2:86598158..86600807,3	K562	blood:
12	chr2:86588403..86590513-chr2:86593464..86596116,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10178917	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1113169	0.84[ASN][1000 genomes]
rs12617075	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12714181	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13035266	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13383096	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2113607	0.91[ASN][1000 genomes]
rs4832278	1.00[ASN][1000 genomes]
rs4832279	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832282	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs766285	0.82[EUR][1000 genomes]
rs908791	0.87[EUR][1000 genomes];0.84[ASN][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4832280	VPS24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86593000-86596000	Enhancers	Fetal Intestine Small	intestine
2	chr2:86593400-86595400	Enhancers	Duodenum Mucosa	Duodenum
3	chr2:86593400-86596000	Enhancers	Fetal Intestine Large	intestine
4	chr2:86593400-86596000	Enhancers	Pancreas	Pancrea
5	chr2:86594000-86596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:86594000-86596000	Enhancers	Right Ventricle	heart
7	chr2:86594200-86595400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:86594200-86595400	Enhancers	HepG2	liver
9	chr2:86594200-86595600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:86594200-86596000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:86594200-86596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:86594200-86596000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:86594400-86596200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:86594600-86595400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:86594600-86596000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:86594800-86595400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:86594800-86595600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:86594800-86595600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:86594800-86596000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:86594800-86596000	Enhancers	Stomach Mucosa	stomach
21	chr2:86595000-86595400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:86595000-86595400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:86595000-86595400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:86595000-86595400	Enhancers	Osteobl	bone
25	chr2:86595000-86595600	Enhancers	Gastric	stomach
26	chr2:86595000-86595800	Enhancers	Adipose Nuclei	Adipose
27	chr2:86595000-86596000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:86595000-86596000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:86595000-86596200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:86595000-86596200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:86595000-86596600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:86595200-86595400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:86595200-86595400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:86595200-86595400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:86595200-86595400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:86595200-86595400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:86595200-86595400	Enhancers	Colon Smooth Muscle	Colon
38	chr2:86595200-86595400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:86595200-86595400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:86595200-86595400	Enhancers	NH-A	brain
41	chr2:86595200-86595400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr2:86595200-86595400	Enhancers	NHEK	skin
43	chr2:86595200-86595600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:86595200-86595600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:86595200-86595600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:86595200-86595600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:86595200-86595600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:86595200-86595600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:86595200-86595600	Flanking Active TSS	Liver	Liver
50	chr2:86595200-86595600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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