Variant report

Variant	rs56080313
Chromosome Location	chr4:151047771-151047772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151043515..151045552-chr4:151046673..151048620,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12498375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501667	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557242	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4622980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382032	0.82[ASN][1000 genomes]
rs56896627	0.84[ASN][1000 genomes]
rs62338174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62338175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338178	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338181	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62338183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62339889	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62339915	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72965546	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7438351	0.84[ASN][1000 genomes]
rs7667241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151037400-151048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:151038200-151051600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:151038800-151070000	Weak transcription	Ovary	ovary
4	chr4:151039000-151048000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:151039000-151048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:151039000-151052800	Weak transcription	Right Ventricle	heart
7	chr4:151043200-151048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:151043200-151052200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:151043400-151051600	Weak transcription	Brain Substantia Nigra	brain
10	chr4:151043600-151047800	Weak transcription	Fetal Lung	lung
11	chr4:151044200-151052800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:151044600-151049400	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:151044800-151049000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:151045400-151047800	Enhancers	A549	lung
16	chr4:151045400-151052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:151046600-151048200	Enhancers	Fetal Heart	heart
18	chr4:151046600-151049000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:151046800-151048400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:151047200-151047800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:151047200-151047800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:151047200-151047800	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:151047200-151047800	Enhancers	GM12878-XiMat	blood
24	chr4:151047200-151047800	Enhancers	NH-A	brain
25	chr4:151047200-151048200	Enhancers	Adipose Nuclei	Adipose
26	chr4:151047200-151048200	Enhancers	Brain Anterior Caudate	brain
27	chr4:151047200-151048200	Enhancers	Colon Smooth Muscle	Colon
28	chr4:151047200-151048400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:151047200-151048400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:151047200-151048600	Enhancers	HUVEC	blood vessel
31	chr4:151047200-151049600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:151047200-151049600	Enhancers	NHDF-Ad	bronchial
33	chr4:151047200-151049800	Enhancers	NHLF	lung
34	chr4:151047200-151050000	Enhancers	HSMMtube	muscle
35	chr4:151047200-151050200	Enhancers	HSMM	muscle
36	chr4:151047200-151050400	Enhancers	Osteobl	bone
37	chr4:151047400-151048400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr4:151047400-151049200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:151047400-151049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:151047400-151049400	Enhancers	NHEK	skin
41	chr4:151047400-151058200	Weak transcription	Left Ventricle	heart
42	chr4:151047600-151047800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:151047600-151048000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:151047600-151048200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:151047600-151049200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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