Variant report

Variant	rs4525555
Chromosome Location	chr17:45337949-45337950
allele	C/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	MAX	chr17:45337908-45338126	K562	blood:	n/a	chr17:45337983-45337990
2	MAX	chr17:45337822-45338130	K562	blood:	n/a	chr17:45337983-45337990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45273730..45275648-chr17:45337706..45340032,2	K562	blood:

Variant related genes	Relation type
RNU7-186P	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11079770	0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11656693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657517	0.82[TSI][hapmap]
rs12709458	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs15908	0.80[GIH][hapmap];0.89[TSI][hapmap]
rs2292699	0.83[GIH][hapmap];0.89[TSI][hapmap]
rs2292867	0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs34491511	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3892084	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4470207	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4598971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629024	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67696888	0.89[ASN][1000 genomes]
rs8073179	0.82[AFR][1000 genomes]
rs8077238	0.84[AFR][1000 genomes]
rs8077375	0.92[ASW][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs8077753	0.88[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4525555	OR7E35P	cis	Liver	GTEx
rs4525555	C17orf57	cis	parietal	SCAN
rs4525555	Contig38852_RC	trans	multi-tissue	Pritchard
rs4525555	MYL4	cis	Liver	GTEx
rs4525555	NPEPPS	cis	parietal	SCAN
rs4525555	NM_207479	trans	multi-tissue	Pritchard
rs4525555	OR7E35P	trans	multi-tissue	Pritchard
rs4525555	MYL4	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45335600-45340000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:45335600-45340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:45335800-45339600	Weak transcription	Fetal Stomach	stomach
7	chr17:45335800-45339600	Weak transcription	GM12878-XiMat	blood
8	chr17:45335800-45340000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:45335800-45340000	Weak transcription	Adipose Nuclei	Adipose
10	chr17:45335800-45340000	Weak transcription	Left Ventricle	heart
11	chr17:45335800-45340200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:45335800-45341200	Weak transcription	HSMMtube	muscle
13	chr17:45335800-45342600	Weak transcription	NHLF	lung
14	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
15	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
16	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
17	chr17:45336200-45339200	Weak transcription	HUVEC	blood vessel
18	chr17:45336200-45339400	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:45336200-45342000	Weak transcription	HSMM	muscle
20	chr17:45336200-45342600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45336200-45343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:45336400-45339600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45336400-45339600	Weak transcription	Spleen	Spleen
24	chr17:45336400-45341000	Weak transcription	K562	blood
25	chr17:45336400-45341400	Weak transcription	NHDF-Ad	bronchial
26	chr17:45336400-45342600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:45336400-45342800	Weak transcription	NH-A	brain
28	chr17:45336400-45342800	Weak transcription	Osteobl	bone
29	chr17:45336600-45339600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:45337200-45342000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:45337400-45338000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:45337800-45338000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr17:45337800-45338000	Enhancers	Fetal Muscle Leg	muscle

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