Variant report

Variant	rs7723306
Chromosome Location	chr5:59818778-59818779
allele	A/G
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	NFIC	chr5:59816967-59818822	GM12878	blood:	n/a	n/a
2	MAZ	chr5:59816976-59818835	GM12878	blood:	n/a	n/a
3	PBX3	chr5:59818214-59818879	SK-N-SH	brain:	n/a	n/a
4	FOXM1	chr5:59817676-59818846	GM12878	blood:	n/a	n/a
5	JUND	chr5:59818165-59818941	SK-N-SH	brain:	n/a	chr5:59818445-59818455 chr5:59818445-59818455
6	RCOR1	chr5:59817281-59819093	GM12878	blood:	n/a	n/a
7	EP300	chr5:59817369-59818839	GM12878	blood:	n/a	chr5:59817979-59817988 chr5:59817764-59817778 chr5:59817763-59817777
8	STAT5A	chr5:59817783-59818853	GM12878	blood:	n/a	chr5:59817982-59817989
9	EP300	chr5:59818152-59818920	SK-N-SH	brain:	n/a	n/a
10	ATF2	chr5:59817180-59818864	GM12878	blood:	n/a	n/a
11	JUND	chr5:59818165-59818876	SK-N-SH	brain:	n/a	chr5:59818445-59818455 chr5:59818445-59818455
12	SMC3	chr5:59817332-59818850	GM12878	blood:	n/a	n/a
13	BCLAF1	chr5:59818153-59818842	GM12878	blood:	n/a	chr5:59818521-59818529
14	TCF12	chr5:59818238-59818924	SK-N-SH	brain:	n/a	n/a
15	EP300	chr5:59818357-59818807	SK-N-SH_RA	brain:	n/a	n/a
16	MTA3	chr5:59817192-59818870	GM12878	blood:	n/a	n/a
17	CEBPB	chr5:59817727-59818871	GM12878	blood:	n/a	n/a
18	FOXM1	chr5:59816955-59818827	GM12878	blood:	n/a	n/a
19	YY1	chr5:59818394-59818781	GM12878	blood:	n/a	n/a
20	STAT5A	chr5:59817701-59818779	GM12878	blood:	n/a	chr5:59817982-59817989
21	FOSL2	chr5:59818218-59818845	SK-N-SH	brain:	n/a	chr5:59818445-59818455 chr5:59818445-59818455
22	NFIC	chr5:59816670-59818942	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:59815833-59818828	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:59815831-59818879	GM12892	blood:	n/a	n/a
25	POLR2A	chr5:59815917-59819247	GM12891	blood:	n/a	n/a
26	GATA3	chr5:59818138-59819000	SK-N-SH	brain:	n/a	n/a
27	YY1	chr5:59818366-59818813	K562	blood:	n/a	n/a
28	EP300	chr5:59817773-59818826	GM12878	blood:	n/a	chr5:59817979-59817988
29	POLR2A	chr5:59815410-59818932	GM12878	blood:	n/a	n/a
30	PBX3	chr5:59818140-59818837	SK-N-SH	brain:	n/a	chr5:59818198-59818207 chr5:59818184-59818193
31	RUNX3	chr5:59818205-59818910	GM12878	blood:	n/a	n/a
32	MAX	chr5:59818008-59819090	GM12878	blood:	n/a	n/a
33	TEAD4	chr5:59818184-59818907	SK-N-SH	brain:	n/a	n/a
34	STAT3	chr5:59817846-59818825	GM12878	blood:	n/a	chr5:59817982-59817989
35	POLR2A	chr5:59816728-59819416	Raji	blood:	n/a	n/a
36	TBL1XR1	chr5:59816820-59819086	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:59815887-59819309	GM18505	blood:	n/a	n/a
38	TCF12	chr5:59818150-59819005	SK-N-SH	brain:	n/a	n/a
39	ATF2	chr5:59817730-59818784	GM12878	blood:	n/a	n/a
40	MTA3	chr5:59815841-59819241	GM12878	blood:	n/a	n/a
41	JUND	chr5:59818255-59818889	SK-N-SH	brain:	n/a	chr5:59818445-59818455 chr5:59818445-59818455
42	RUNX3	chr5:59817763-59818880	GM12878	blood:	n/a	n/a
43	EP300	chr5:59818217-59818955	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr5:59815866-59818884	GM12892	blood:	n/a	n/a
45	CHD2	chr5:59817759-59818856	GM12878	blood:	n/a	n/a
46	PML	chr5:59816710-59818813	GM12878	blood:	n/a	chr5:59818303-59818311
47	GATA3	chr5:59818179-59818835	SK-N-SH	brain:	n/a	n/a
48	WRNIP1	chr5:59817875-59818838	GM12878	blood:	n/a	n/a
49	NFATC1	chr5:59817680-59818779	GM12878	blood:	n/a	n/a
50	POU2F2	chr5:59817771-59818780	GM12878	blood:	n/a	chr5:59818015-59818028 chr5:59818480-59818493 chr5:59818018-59818025 chr5:59818356-59818368 chr5:59818017-59818027 chr5:59818016-59818028 chr5:59818017-59818027 chr5:59818484-59818491 chr5:59818014-59818028 chr5:59818482-59818492 chr5:59818017-59818026

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59801403..59803161-chr5:59818355..59820086,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE4D-1	chr5:59817878-59822213	XLOC_004839
2	lnc-AC109486.1-1	chr5:59816847-59822245	NONHSAT101638
3	lnc-AC109486.1-1	chr5:59816847-59822245	ENSG00000152931.7

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10036678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044835	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045093	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10056275	0.87[AFR][1000 genomes]
rs10065640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10074908	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075757	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10078847	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10939850	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1379112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16878193	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16878206	0.83[ASN][1000 genomes]
rs16878207	0.83[ASN][1000 genomes]
rs28509215	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28531078	0.89[AFR][1000 genomes]
rs3857235	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4081739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4133470	1.00[JPT][hapmap]
rs6449475	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6891919	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6898521	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73093136	0.91[ASN][1000 genomes]
rs7707672	0.95[AFR][1000 genomes]
rs7712091	0.83[ASN][1000 genomes]
rs7712117	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7724442	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7727343	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7729652	0.90[ASN][1000 genomes]
rs7729781	0.90[ASN][1000 genomes]
rs9291692	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59812800-59822400	Weak transcription	Brain Angular Gyrus	brain
2	chr5:59814000-59819600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:59814800-59818800	Enhancers	Adipose Nuclei	Adipose
4	chr5:59815800-59820600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:59816000-59818800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr5:59816600-59819600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:59816800-59818800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr5:59817000-59822000	Weak transcription	Fetal Thymus	thymus
9	chr5:59817400-59818800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:59817400-59819000	Enhancers	Osteobl	bone
11	chr5:59817400-59822000	Weak transcription	Brain Substantia Nigra	brain
12	chr5:59817600-59818800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:59817600-59818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:59817600-59819200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:59817800-59819400	Enhancers	NH-A	brain
16	chr5:59817800-59819600	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:59817800-59820000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:59817800-59829000	Weak transcription	Aorta	Aorta
19	chr5:59818000-59818800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:59818000-59819200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr5:59818000-59822000	Weak transcription	Dnd41	blood
22	chr5:59818000-59822400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:59818000-59822400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:59818200-59818800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:59818200-59818800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:59818200-59818800	Enhancers	HUVEC	blood vessel
27	chr5:59818200-59819400	Enhancers	Fetal Stomach	stomach
28	chr5:59818200-59819800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:59818200-59819800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:59818400-59818800	Enhancers	Right Atrium	heart
31	chr5:59818400-59819000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr5:59818400-59819600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:59818400-59820200	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:59818400-59821000	Weak transcription	HepG2	liver
35	chr5:59818400-59822600	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:59818600-59818800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr5:59818600-59818800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:59818600-59818800	Enhancers	Fetal Muscle Leg	muscle
39	chr5:59818600-59818800	Enhancers	Left Ventricle	heart
40	chr5:59818600-59819400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:59818600-59819400	Enhancers	Placenta	Placenta
42	chr5:59818600-59819400	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:59818600-59821600	Weak transcription	Primary T cells from cord blood	blood

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