Variant report

Variant	rs15908
Chromosome Location	chr17:45368337-45368338
allele	A/C/G/T
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	TEAD4	chr17:45368159-45369483	K562	blood:	n/a	n/a
2	JUN	chr17:45368297-45368504	K562	blood:	n/a	n/a
3	CEBPB	chr17:45368259-45369444	K562	blood:	n/a	chr17:45369051-45369062 chr17:45368644-45368653 chr17:45368644-45368653 chr17:45368956-45368968 chr17:45368644-45368653
4	GATA1	chr17:45368142-45369479	K562	blood:	n/a	chr17:45368624-45368634
5	NR2F2	chr17:45368174-45368517	K562	blood:	n/a	n/a
6	CEBPD	chr17:45368215-45369441	K562	blood:	n/a	chr17:45368644-45368653
7	JUND	chr17:45368248-45368687	K562	blood:	n/a	n/a
8	TAL1	chr17:45368277-45368645	K562	blood:	n/a	n/a
9	JUND	chr17:45368238-45369227	HepG2	liver:	n/a	n/a
10	TEAD4	chr17:45368292-45369271	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ITGB3	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1000232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16941801	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2015729	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851807	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4525555	0.80[GIH][hapmap];0.89[TSI][hapmap]
rs4629024	0.89[TSI][hapmap]
rs4642	0.81[ASW][hapmap]
rs56327427	0.96[ASN][1000 genomes]
rs7209700	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs7212751	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7214468	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217710	0.81[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7218632	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073827	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs8074348	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs999323	0.81[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.82[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs15908	C17orf57	cis	parietal	SCAN
rs15908	C17orf57	cis	cerebellum	SCAN
rs15908	NPEPPS	cis	parietal	SCAN
rs15908	KRT32	cis	parietal	SCAN
rs15908	SNX11	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
2	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
3	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
4	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
5	chr17:45357800-45369400	Weak transcription	Fetal Intestine Small	intestine
6	chr17:45358200-45371800	Weak transcription	Colonic Mucosa	Colon
7	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:45358600-45371000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:45359000-45371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:45359000-45372000	Weak transcription	Left Ventricle	heart
11	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45359800-45371200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:45360400-45371800	Strong transcription	Colon Smooth Muscle	Colon
14	chr17:45360600-45373800	Strong transcription	Fetal Stomach	stomach
15	chr17:45360800-45371800	Strong transcription	Fetal Muscle Leg	muscle
16	chr17:45361400-45370000	Strong transcription	Aorta	Aorta
17	chr17:45361400-45371400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr17:45362800-45370800	Weak transcription	HUVEC	blood vessel
19	chr17:45364400-45371800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:45364600-45369400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:45365800-45370800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:45366000-45369800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:45366000-45371400	Weak transcription	GM12878-XiMat	blood
24	chr17:45366200-45370600	Weak transcription	Primary B cells from cord blood	blood
25	chr17:45366200-45371400	Weak transcription	HSMM	muscle
26	chr17:45366200-45372200	Weak transcription	Small Intestine	intestine
27	chr17:45366400-45368600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:45366400-45368600	Enhancers	K562	blood
29	chr17:45366400-45369000	Weak transcription	Fetal Heart	heart
30	chr17:45366400-45369400	Weak transcription	Ovary	ovary
31	chr17:45366400-45369600	Weak transcription	Gastric	stomach
32	chr17:45366400-45371400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:45366400-45371600	Weak transcription	Hela-S3	cervix
34	chr17:45366400-45371800	Weak transcription	Lung	lung
35	chr17:45366600-45371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:45366600-45371200	Weak transcription	NH-A	brain
37	chr17:45366600-45371800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:45366600-45371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr17:45366600-45371800	Weak transcription	Right Atrium	heart
40	chr17:45366800-45371800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:45367400-45368800	Strong transcription	HSMMtube	muscle
42	chr17:45367600-45368600	Enhancers	Spleen	Spleen
43	chr17:45367600-45368800	Strong transcription	Rectal Smooth Muscle	rectum
44	chr17:45367600-45369000	Weak transcription	NHDF-Ad	bronchial
45	chr17:45367600-45369400	Enhancers	Placenta	Placenta
46	chr17:45367600-45370000	Strong transcription	NHLF	lung
47	chr17:45367800-45368600	Bivalent Enhancer	HepG2	liver
48	chr17:45367800-45369400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr17:45368000-45368400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:45368000-45368400	Genic enhancers	Adipose Nuclei	Adipose

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