Variant report

Variant	rs72957333
Chromosome Location	chr6:74491626-74491627
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	chr6:74490266..74491964-chr6:74504543..74507393,2	K562	blood:

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

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

rs_ID	r²[population]
rs12192907	0.83[AFR][1000 genomes]
rs1992140	1.00[AFR][1000 genomes]
rs41266753	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45464791	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45474895	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55878103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56201021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58789425	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72955232	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72957306	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72957350	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72959395	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active 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	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv528148	chr6:74468860-74493432	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:74468000-74492200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:74474800-74498200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
10	chr6:74477400-74543400	Weak transcription	Lung	lung
11	chr6:74480200-74493800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:74484400-74505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:74484600-74492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:74484600-74494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:74484600-74495400	Weak transcription	NHEK	skin
16	chr6:74484600-74498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:74484600-74500200	Weak transcription	Left Ventricle	heart
18	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
21	chr6:74484800-74492200	Weak transcription	A549	lung
22	chr6:74484800-74494000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:74484800-74497800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:74484800-74498600	Weak transcription	NH-A	brain
25	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
26	chr6:74484800-74512600	Weak transcription	HSMM	muscle
27	chr6:74485400-74493400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:74485400-74498400	Weak transcription	Osteobl	bone
29	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:74489400-74498200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:74489800-74497600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:74490000-74494000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:74490000-74498000	Strong transcription	HMEC	breast
35	chr6:74490200-74493400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:74490400-74495600	Strong transcription	HUVEC	blood vessel
38	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
39	chr6:74490600-74491800	Enhancers	Fetal Brain Male	brain
40	chr6:74490600-74498000	Strong transcription	NHDF-Ad	bronchial
41	chr6:74490600-74503600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:74490800-74500200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:74491000-74492200	Weak transcription	Liver	Liver
46	chr6:74491000-74499800	Weak transcription	Primary T cells from cord blood	blood
47	chr6:74491200-74493600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:74491200-74497800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:74491400-74492400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:74491400-74498200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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