Variant report

Variant	rs4832279
Chromosome Location	chr2:86595081-86595082
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr2:86572451..86574129-chr2:86595066..86597224,2	K562	blood:
5	chr2:86593659..86595230-chr2:86598158..86600807,2	K562	blood:
6	chr2:86594067..86596122-chr2:86600316..86602892,2	MCF-7	breast:
7	chr2:86593659..86596612-chr2:86598158..86600807,3	K562	blood:
8	chr2:86588403..86590513-chr2:86593464..86596116,2	MCF-7	breast:

No data

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10169091	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10178917	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10865481	0.89[CEU][hapmap]
rs1113169	0.84[ASN][1000 genomes]
rs12617075	0.92[CEU][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12714181	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13035266	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13383096	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2113607	0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs4832278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4832280	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832282	0.92[CEU][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6710124	0.85[CEU][hapmap]
rs766285	0.81[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs908791	0.82[AMR][1000 genomes];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
rs4832279	VPS24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86588400-86595200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:86593000-86596000	Enhancers	Fetal Intestine Small	intestine
3	chr2:86593400-86595400	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:86593400-86596000	Enhancers	Fetal Intestine Large	intestine
5	chr2:86593400-86596000	Enhancers	Pancreas	Pancrea
6	chr2:86594000-86595200	Enhancers	Liver	Liver
7	chr2:86594000-86596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:86594000-86596000	Enhancers	Right Ventricle	heart
9	chr2:86594200-86595400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:86594200-86595400	Enhancers	HepG2	liver
11	chr2:86594200-86595600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:86594200-86596000	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:86594200-86596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:86594200-86596000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:86594400-86596200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:86594600-86595400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:86594600-86596000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:86594800-86595200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:86594800-86595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:86594800-86595200	Enhancers	Hela-S3	cervix
21	chr2:86594800-86595400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:86594800-86595600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:86594800-86595600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:86594800-86596000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:86594800-86596000	Enhancers	Stomach Mucosa	stomach
26	chr2:86595000-86595200	Enhancers	Primary T cells from cord blood	blood
27	chr2:86595000-86595200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:86595000-86595200	Enhancers	Small Intestine	intestine
29	chr2:86595000-86595400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:86595000-86595400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:86595000-86595400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:86595000-86595400	Enhancers	Osteobl	bone
33	chr2:86595000-86595600	Enhancers	Gastric	stomach
34	chr2:86595000-86595800	Enhancers	Adipose Nuclei	Adipose
35	chr2:86595000-86596000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:86595000-86596000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:86595000-86596200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:86595000-86596200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:86595000-86596600	Enhancers	Primary T helper cells fromperipheralblood	blood

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