Variant report

Variant	rs8039850
Chromosome Location	chr15:78383065-78383066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:78382901-78383146	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:78382720-78383150	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr15:78382777-78383066	HepG2	liver:	n/a	n/a
4	CEBPB	chr15:78382784-78383091	A549	lung:	n/a	n/a
5	EP300	chr15:78382798-78383246	Hela-S3	cervix:	n/a	chr15:78382895-78382903
6	CEBPB	chr15:78382777-78383139	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
SH2D7	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11635115	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4438275	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4887008	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7183671	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs894298	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8039850	ULK3	cis	parietal	SCAN
rs8039850	UBE2Q2	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78375400-78383800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:78375600-78383800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:78375600-78384400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:78376800-78384600	Weak transcription	Right Atrium	heart
5	chr15:78377000-78385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:78377200-78384600	Weak transcription	Lung	lung
7	chr15:78378000-78384600	Weak transcription	Placenta	Placenta
8	chr15:78378200-78384600	Weak transcription	Fetal Thymus	thymus
9	chr15:78379000-78384400	Weak transcription	Adipose Nuclei	Adipose
10	chr15:78380200-78386400	Enhancers	Stomach Mucosa	stomach
11	chr15:78380600-78384000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:78381000-78384600	Weak transcription	Spleen	Spleen
13	chr15:78381000-78385600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:78381200-78384600	Weak transcription	Pancreas	Pancrea
15	chr15:78381200-78384600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:78381400-78384600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:78381400-78384600	Weak transcription	Gastric	stomach
18	chr15:78381400-78384600	Weak transcription	HSMMtube	muscle
19	chr15:78381800-78383200	Weak transcription	Fetal Intestine Small	intestine
20	chr15:78381800-78383200	Weak transcription	HepG2	liver
21	chr15:78381800-78384600	Weak transcription	Fetal Intestine Large	intestine
22	chr15:78381800-78384600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:78382000-78384400	Weak transcription	Small Intestine	intestine
24	chr15:78382000-78384600	Weak transcription	Colonic Mucosa	Colon
25	chr15:78382400-78386800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:78383000-78386600	Enhancers	Fetal Lung	lung

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