Variant report

Variant	rs1272388
Chromosome Location	chr4:75083767-75083768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1246783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1261916	0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1271964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476556	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs478987	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524018	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524111	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533770	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs543582	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2760892	chr4:75073700-75085646	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv437397	chr4:75077057-75095061	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 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	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
4	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
6	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:75072200-75099200	Weak transcription	Ovary	ovary
10	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:75073800-75089400	Weak transcription	A549	lung
12	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
14	chr4:75074200-75084000	Weak transcription	HMEC	breast
15	chr4:75074600-75091200	Weak transcription	Liver	Liver
16	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
17	chr4:75078000-75084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:75080800-75083800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:75080800-75095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:75080800-75095400	Weak transcription	Fetal Thymus	thymus
22	chr4:75081000-75085200	Weak transcription	Esophagus	oesophagus
23	chr4:75081000-75091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:75081200-75085000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:75081200-75085200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:75081200-75087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:75081200-75088000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:75081400-75085000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:75081400-75085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:75081400-75085400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:75081400-75091000	Weak transcription	Left Ventricle	heart
32	chr4:75081600-75084800	Weak transcription	Fetal Heart	heart
33	chr4:75082600-75086400	Enhancers	Osteobl	bone
34	chr4:75082800-75084600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:75083000-75085400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:75083200-75083800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:75083200-75083800	Enhancers	HSMMtube	muscle
38	chr4:75083200-75084000	Weak transcription	GM12878-XiMat	blood
39	chr4:75083200-75085800	Enhancers	HSMM	muscle
40	chr4:75083400-75083800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:75083400-75085400	Enhancers	NHEK	skin
42	chr4:75083600-75084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:75083600-75085000	Weak transcription	K562	blood
44	chr4:75083600-75085600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:75083600-75085600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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