Variant report

Variant	rs533770
Chromosome Location	chr4:75081116-75081117
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	chr4:75072066..75073934-chr4:75080235..75082986,2	K562	blood:
2	chr4:75071138..75073600-chr4:75079457..75081137,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1246764	1.00[MEX][hapmap]
rs1246783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1261916	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1271964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1272388	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs478987	1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488460	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524018	1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524111	0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs543582	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs553444	1.00[MEX][hapmap]
rs7441673	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	esv16427	chr4:75078561-75083647	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2421669	chr4:75081112-75082206	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv441890	chr4:75081112-75082206	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 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	chr4:75068400-75082400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
7	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
8	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:75072200-75099200	Weak transcription	Ovary	ovary
11	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:75073800-75089400	Weak transcription	A549	lung
13	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
15	chr4:75074000-75082800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:75074200-75082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:75074200-75084000	Weak transcription	HMEC	breast
18	chr4:75074400-75083200	Weak transcription	HSMMtube	muscle
19	chr4:75074600-75091200	Weak transcription	Liver	Liver
20	chr4:75075000-75095800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:75075200-75083400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:75078000-75084800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:75078400-75083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:75080000-75081200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:75080000-75081200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:75080000-75081400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:75080200-75081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:75080200-75081400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:75080200-75081400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:75080200-75081400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:75080200-75081400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:75080400-75081200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:75080400-75081200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:75080400-75081400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:75080600-75081200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:75080600-75081600	Enhancers	Fetal Heart	heart
37	chr4:75080600-75109600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:75080800-75081200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:75080800-75081200	Weak transcription	Left Ventricle	heart
40	chr4:75080800-75083800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:75080800-75095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:75080800-75095400	Weak transcription	Fetal Thymus	thymus
43	chr4:75081000-75081200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr4:75081000-75082600	Weak transcription	K562	blood
45	chr4:75081000-75082800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:75081000-75085200	Weak transcription	Esophagus	oesophagus
47	chr4:75081000-75091200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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