Variant report

Variant	rs7694813
Chromosome Location	chr4:120445321-120445322
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	POLR2A	chr4:120444207-120447935	K562	blood:	n/a	n/a
2	EBF1	chr4:120445142-120445550	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
2	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:

Variant related genes	Relation type
PDE5A	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10013852	0.90[AFR][1000 genomes]
rs10021469	0.90[AFR][1000 genomes]
rs11932826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13119104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13125819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17005698	1.00[AMR][1000 genomes]
rs2256645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2257018	0.82[AFR][1000 genomes]
rs2389884	0.96[AFR][1000 genomes]
rs2622497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715018	0.82[AFR][1000 genomes]
rs2928991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146266	0.96[AFR][1000 genomes]
rs4264816	1.00[AMR][1000 genomes]
rs4833621	0.85[AFR][1000 genomes]
rs4834786	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4834787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6534136	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6534145	0.90[AFR][1000 genomes]
rs6534148	0.85[AFR][1000 genomes]
rs6827780	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6831062	0.85[AFR][1000 genomes]
rs6845402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7439678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665086	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9307480	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	esv1802153	chr4:120397829-120457682	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
3	chr4:120403400-120445800	Weak transcription	A549	lung
4	chr4:120417600-120445800	Weak transcription	NHEK	skin
5	chr4:120420200-120485400	Weak transcription	Fetal Brain Male	brain
6	chr4:120420400-120449600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:120421000-120445600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:120421200-120455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:120422000-120446400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:120422800-120446600	Weak transcription	Fetal Stomach	stomach
11	chr4:120422800-120448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:120423400-120450600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:120430800-120447400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:120434600-120474400	Weak transcription	Gastric	stomach
15	chr4:120434800-120446000	Weak transcription	HSMMtube	muscle
16	chr4:120434800-120446200	Weak transcription	HMEC	breast
17	chr4:120434800-120446400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:120434800-120448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:120434800-120455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:120434800-120464800	Weak transcription	Lung	lung
21	chr4:120435000-120457800	Weak transcription	Right Ventricle	heart
22	chr4:120435000-120473200	Weak transcription	Esophagus	oesophagus
23	chr4:120435000-120487600	Weak transcription	Colonic Mucosa	Colon
24	chr4:120435200-120455800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:120435400-120448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:120436200-120473800	Weak transcription	Fetal Brain Female	brain
27	chr4:120436600-120446000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:120436600-120452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:120436600-120455000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:120436600-120456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:120436600-120471600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:120436800-120446600	Weak transcription	Aorta	Aorta
33	chr4:120436800-120474000	Weak transcription	Thymus	Thymus
34	chr4:120437600-120450600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:120437600-120474200	Weak transcription	Brain Substantia Nigra	brain
36	chr4:120437800-120450400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:120437800-120479200	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:120438200-120446200	Weak transcription	Ovary	ovary
39	chr4:120438200-120484800	Weak transcription	Brain Anterior Caudate	brain
40	chr4:120439200-120445400	Weak transcription	HepG2	liver
41	chr4:120439400-120446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:120439400-120446400	Weak transcription	Fetal Heart	heart
43	chr4:120439400-120455000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:120439400-120455400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:120439400-120455800	Weak transcription	GM12878-XiMat	blood
46	chr4:120439400-120474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:120439600-120455800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:120439800-120445400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:120439800-120445600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:120439800-120450400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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