Variant report

Variant	rs3775426
Chromosome Location	chr4:90686925-90686926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90684847..90686984-chr4:90687904..90690471,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10014396	0.95[ASN][1000 genomes]
rs10018362	0.95[ASN][1000 genomes]
rs17016168	0.95[ASN][1000 genomes]
rs17016183	0.95[ASN][1000 genomes]
rs17016190	0.95[ASN][1000 genomes]
rs17016255	0.92[ASN][1000 genomes]
rs34410265	0.92[ASN][1000 genomes]
rs34506386	0.85[ASN][1000 genomes]
rs34634504	0.92[ASN][1000 genomes]
rs34699553	0.85[ASN][1000 genomes]
rs3756055	0.95[ASN][1000 genomes]
rs3756056	0.92[ASN][1000 genomes]
rs3756057	0.92[ASN][1000 genomes]
rs3775443	0.95[ASN][1000 genomes]
rs3775446	0.95[ASN][1000 genomes]
rs3775447	0.95[ASN][1000 genomes]
rs3775448	0.92[ASN][1000 genomes]
rs3775458	0.92[ASN][1000 genomes]
rs3775461	0.92[ASN][1000 genomes]
rs3889916	0.95[ASN][1000 genomes]
rs3889917	0.95[ASN][1000 genomes]
rs3906824	0.95[ASN][1000 genomes]
rs56270968	0.95[ASN][1000 genomes]
rs59398886	0.95[ASN][1000 genomes]
rs61027512	0.95[ASN][1000 genomes]
rs6829514	0.95[ASN][1000 genomes]
rs7665887	0.95[ASN][1000 genomes]
rs7684637	0.95[ASN][1000 genomes]
rs7684892	0.95[ASN][1000 genomes]
rs7689942	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90649400-90696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:90663400-90691400	Weak transcription	Dnd41	blood
3	chr4:90675000-90687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:90675200-90687000	Weak transcription	Fetal Kidney	kidney
5	chr4:90675400-90687000	Weak transcription	Fetal Brain Male	brain
6	chr4:90675400-90696200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:90676200-90709200	Weak transcription	HUVEC	blood vessel
8	chr4:90683600-90687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:90683600-90689200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:90684600-90687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:90685200-90696400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:90686000-90687000	Enhancers	Fetal Lung	lung
13	chr4:90686000-90687800	Enhancers	Brain Hippocampus Middle	brain
14	chr4:90686200-90687600	Enhancers	Brain Anterior Caudate	brain
15	chr4:90686200-90687600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:90686200-90688200	Enhancers	Brain Substantia Nigra	brain
17	chr4:90686400-90687000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:90686400-90687400	Enhancers	Left Ventricle	heart
19	chr4:90686400-90687400	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:90686400-90687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:90686400-90687600	Enhancers	NHEK	skin
22	chr4:90686800-90687000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:90686800-90687200	Enhancers	Brain Angular Gyrus	brain
24	chr4:90686800-90687200	Enhancers	HSMM	muscle
25	chr4:90686800-90687200	Enhancers	HSMMtube	muscle
26	chr4:90686800-90687400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:90686800-90687400	Enhancers	Brain Cingulate Gyrus	brain
28	chr4:90686800-90687400	Enhancers	HMEC	breast
29	chr4:90686800-90687400	Enhancers	NH-A	brain
30	chr4:90686800-90687600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:90686800-90687600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:90686800-90687600	Enhancers	Fetal Stomach	stomach
33	chr4:90686800-90687800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:90686800-90687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:90686800-90687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:90686800-90687800	Enhancers	Fetal Heart	heart
37	chr4:90686800-90688000	Enhancers	Muscle Satellite Cultured Cells	--

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