Variant report

Variant	rs8019978
Chromosome Location	chr14:55557284-55557285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55368968..55370719-chr14:55556794..55559015,2	MCF-7	breast:
2	chr14:55550357..55576811-chr14:55577745..55605179,160	MCF-7	breast:
3	chr14:55550347..55552515-chr14:55555863..55558677,2	K562	blood:
4	chr14:55555833..55558389-chr14:55562200..55563979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1002054	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10131768	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145268	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs10220693	0.83[EUR][1000 genomes]
rs10467798	1.00[YRI][hapmap]
rs11848846	0.90[EUR][1000 genomes]
rs11849961	0.87[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap]
rs1187877	0.81[CEU][hapmap];0.90[TSI][hapmap]
rs1201378	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs1209087	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs13379159	0.85[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs17832311	0.85[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs2075601	1.00[YRI][hapmap]
rs2075602	1.00[YRI][hapmap]
rs2147964	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2251366	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2340921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2341621	1.00[YRI][hapmap]
rs2341622	1.00[YRI][hapmap]
rs3818451	1.00[YRI][hapmap]
rs4652	1.00[YRI][hapmap]
rs56262555	0.91[EUR][1000 genomes]
rs56725788	0.83[EUR][1000 genomes]
rs61975407	0.80[EUR][1000 genomes]
rs6572999	0.85[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs6573000	0.83[EUR][1000 genomes]
rs6573001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573009	1.00[YRI][hapmap]
rs6573013	1.00[YRI][hapmap]
rs7141975	0.83[EUR][1000 genomes]
rs7144652	0.84[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7159808	1.00[YRI][hapmap]
rs7160523	1.00[YRI][hapmap]
rs7161656	0.82[EUR][1000 genomes]
rs748017	0.80[EUR][1000 genomes]
rs8003624	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8004416	0.93[EUR][1000 genomes]
rs8004787	1.00[YRI][hapmap]
rs8005399	0.85[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs8008134	0.81[CEU][hapmap];0.93[TSI][hapmap]
rs8009670	1.00[YRI][hapmap]
rs8012156	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs8012676	0.91[EUR][1000 genomes]
rs8021929	0.82[EUR][1000 genomes]
rs8022238	0.82[EUR][1000 genomes]
rs873061	0.81[ASN][1000 genomes]
rs9323278	0.84[EUR][1000 genomes]
rs9806049	0.88[CEU][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8019978	FBXO34	cis	cerebellum	SCAN
rs8019978	WDHD1	cis	parietal	SCAN
rs8019978	ATG14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55544800-55558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:55545000-55561400	Weak transcription	HMEC	breast
3	chr14:55549200-55559800	Weak transcription	Ovary	ovary
4	chr14:55551400-55560800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:55551400-55564800	Weak transcription	Right Atrium	heart
6	chr14:55552000-55557400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:55552200-55558400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:55552400-55558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:55552400-55559800	Weak transcription	Stomach Mucosa	stomach
10	chr14:55555000-55557600	Enhancers	NHEK	skin
11	chr14:55556200-55557600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:55556200-55560000	Enhancers	Fetal Intestine Small	intestine
13	chr14:55556200-55560200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:55556400-55558600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:55556400-55558600	Weak transcription	Colonic Mucosa	Colon
16	chr14:55556400-55559400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:55556400-55561000	Weak transcription	A549	lung
18	chr14:55556400-55561400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:55556400-55561600	Weak transcription	NH-A	brain
20	chr14:55556400-55561800	Weak transcription	NHLF	lung
21	chr14:55556400-55564000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:55556600-55557600	Enhancers	Placenta	Placenta
23	chr14:55556600-55557800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:55556600-55559800	Enhancers	Fetal Intestine Large	intestine
25	chr14:55556800-55559000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:55557000-55557400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:55557000-55557400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr14:55557000-55557600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:55557000-55558000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:55557000-55558200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:55557000-55561400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:55557000-55561400	Weak transcription	Osteobl	bone
33	chr14:55557200-55557400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr14:55557200-55557400	Enhancers	Small Intestine	intestine
35	chr14:55557200-55557600	Enhancers	Hela-S3	cervix
36	chr14:55557200-55557800	Enhancers	Fetal Kidney	kidney
37	chr14:55557200-55557800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr14:55557200-55557800	Enhancers	GM12878-XiMat	blood
39	chr14:55557200-55558800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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