Variant report

Variant	rs10491352
Chromosome Location	chr5:58573936-58573937
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	chr5:58573368-58574371	A549	lung:	n/a	n/a

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1031197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10940644	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11954668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11959132	0.80[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11959567	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12189022	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12518773	0.94[ASN][1000 genomes]
rs12519611	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12521263	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12522944	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1445948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1445952	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1445953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1445954	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1579848	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1579849	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16889479	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16889499	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16889518	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17444185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17528522	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17528578	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17628114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17780175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1823070	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1838733	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1840846	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1867711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1867712	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1947090	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1947095	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2021775	1.00[JPT][hapmap]
rs2028836	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2081106	1.00[JPT][hapmap]
rs2409631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4700325	1.00[JPT][hapmap]
rs4700328	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6858946	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6877508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7703022	1.00[CHB][hapmap]
rs7719441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58571800-58579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58572000-58582800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58572200-58574400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:58572200-58583000	Weak transcription	Left Ventricle	heart
5	chr5:58572400-58575800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:58572800-58575200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:58572800-58577800	Enhancers	Hela-S3	cervix
8	chr5:58573000-58574000	Flanking Active TSS	A549	lung
9	chr5:58573000-58574800	Enhancers	Psoas Muscle	Psoas
10	chr5:58573200-58574000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:58573200-58574000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:58573200-58576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:58573400-58583400	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:58573600-58574200	Enhancers	Right Atrium	heart
15	chr5:58573600-58576400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:58573600-58582800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:58573600-58583000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:58573600-58583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:58573800-58575000	Weak transcription	HUVEC	blood vessel
20	chr5:58573800-58576600	Weak transcription	Fetal Heart	heart
21	chr5:58573800-58581400	Weak transcription	Brain Hippocampus Middle	brain

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