Variant report

Variant	rs8014025
Chromosome Location	chr14:68862764-68862765
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68859762..68864000-chr14:68864300..68866609,3	K562	blood:
2	chr14:68860545..68863012-chr14:68924709..68926828,2	MCF-7	breast:
3	chr14:68862313..68866033-chr14:69260307..69264039,7	MCF-7	breast:
4	chr14:68605654..68608460-chr14:68861850..68864803,2	MCF-7	breast:
5	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
6	chr14:68861164..68863928-chr14:68868911..68870731,2	K562	blood:
7	chr14:68407825..68409663-chr14:68862342..68864207,2	MCF-7	breast:
8	chr14:68712152..68714666-chr14:68861670..68863441,2	MCF-7	breast:
9	chr14:68829073..68831953-chr14:68862651..68864586,2	MCF-7	breast:
10	chr11:62623040..62625036-chr14:68860166..68863068,2	MCF-7	breast:
11	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000168003	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006816	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10150212	0.89[ASN][1000 genomes]
rs11158735	0.88[ASN][1000 genomes]
rs11158736	0.87[ASN][1000 genomes]
rs11625452	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435046	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435236	0.81[CHB][hapmap]
rs12889770	0.82[JPT][hapmap]
rs17105561	0.81[CHB][hapmap]
rs17105571	0.84[CHB][hapmap]
rs17105585	0.81[CHB][hapmap];0.83[GIH][hapmap]
rs1885014	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs1956536	0.89[ASN][1000 genomes]
rs1956537	0.85[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2009721	0.86[CEU][hapmap]
rs2331693	0.89[CEU][hapmap]
rs2331696	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2877461	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs3784113	0.89[CEU][hapmap]
rs3784115	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs3784119	0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3784120	0.85[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs3950069	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap]
rs4902576	0.81[JPT][hapmap]
rs4902577	0.82[JPT][hapmap]
rs4902579	0.81[CHB][hapmap]
rs4902583	0.81[CHB][hapmap]
rs55665241	0.96[ASN][1000 genomes]
rs61039700	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013236	0.84[CEU][hapmap]
rs8014234	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018477	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs8021199	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8014025	DCAF5	cis	parietal	SCAN
rs8014025	CHURC1	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68852200-68864200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:68854400-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:68856400-68863000	Enhancers	Rectal Smooth Muscle	rectum
4	chr14:68856600-68865400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:68857000-68865800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:68857200-68863200	Enhancers	Fetal Muscle Leg	muscle
7	chr14:68858000-68863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:68858000-68863000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:68858000-68865200	Enhancers	NHLF	lung
10	chr14:68858000-68865800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:68858200-68865600	Enhancers	Placenta	Placenta
12	chr14:68858400-68865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:68858600-68864200	Weak transcription	Pancreas	Pancrea
14	chr14:68858800-68865600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:68859000-68865400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:68859000-68865800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:68859200-68862800	Enhancers	GM12878-XiMat	blood
18	chr14:68859200-68865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:68859600-68863800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:68859600-68864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:68859800-68863000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:68859800-68863600	Weak transcription	HepG2	liver
23	chr14:68859800-68864000	Weak transcription	HSMMtube	muscle
24	chr14:68859800-68871400	Weak transcription	Gastric	stomach
25	chr14:68860000-68863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:68860000-68863800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:68860000-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:68860200-68862800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:68860200-68863200	Enhancers	Fetal Lung	lung
30	chr14:68860600-68862800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:68860600-68863000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:68860600-68863200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:68860600-68863600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr14:68860600-68864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:68860600-68865600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:68860800-68862800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:68860800-68862800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:68860800-68862800	Enhancers	Left Ventricle	heart
39	chr14:68860800-68863200	Enhancers	Ovary	ovary
40	chr14:68860800-68863800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:68860800-68864000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:68860800-68865000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:68860800-68865400	Enhancers	NHDF-Ad	bronchial
44	chr14:68861000-68862800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr14:68861000-68862800	Enhancers	NH-A	brain
46	chr14:68861000-68865400	Enhancers	Osteobl	bone
47	chr14:68861200-68862800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:68861200-68862800	Enhancers	HSMM	muscle
49	chr14:68861200-68863600	Weak transcription	Primary B cells from cord blood	blood
50	chr14:68861200-68863600	Weak transcription	Primary B cells from peripheral blood	blood

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