Variant report

Variant	rs72957315
Chromosome Location	chr6:74485323-74485324
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs3764240	1.00[AMR][1000 genomes]
rs41309296	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55959929	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56008556	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72955210	0.85[AMR][1000 genomes]
rs72955215	0.85[AMR][1000 genomes]
rs72955217	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955220	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72955226	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72955229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957357	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957379	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72961242	1.00[AMR][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:48 , 50 per page) page: 1

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	chr6:74467400-74486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:74468000-74492200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:74469800-74502800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:74471800-74486600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:74474000-74489400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:74474800-74498200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:74476000-74491200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
14	chr6:74477400-74543400	Weak transcription	Lung	lung
15	chr6:74480000-74490600	Weak transcription	Primary T cells from cord blood	blood
16	chr6:74480200-74493800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:74481800-74490600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:74483400-74485400	Enhancers	Liver	Liver
19	chr6:74484400-74485400	Enhancers	Osteobl	bone
20	chr6:74484400-74505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:74484600-74489600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:74484600-74490400	Weak transcription	HUVEC	blood vessel
23	chr6:74484600-74490800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:74484600-74491400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:74484600-74492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:74484600-74494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:74484600-74495400	Weak transcription	NHEK	skin
28	chr6:74484600-74498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:74484600-74500200	Weak transcription	Left Ventricle	heart
30	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
33	chr6:74484800-74485400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:74484800-74485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:74484800-74485800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:74484800-74486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:74484800-74489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:74484800-74490000	Weak transcription	HMEC	breast
39	chr6:74484800-74490600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:74484800-74490600	Weak transcription	NHDF-Ad	bronchial
41	chr6:74484800-74491600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:74484800-74492200	Weak transcription	A549	lung
43	chr6:74484800-74494000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:74484800-74497800	Weak transcription	Adipose Nuclei	Adipose
45	chr6:74484800-74498600	Weak transcription	NH-A	brain
46	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
47	chr6:74484800-74512600	Weak transcription	HSMM	muscle
48	chr6:74485000-74489800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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