Variant report

Variant	rs72955229
Chromosome Location	chr6:74462014-74462015
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3764240	0.85[AMR][1000 genomes]
rs41309296	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55959929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56008556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955210	1.00[AMR][1000 genomes]
rs72955215	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72955217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72955220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72955226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957314	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957325	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957357	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957379	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72961242	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
3	chr6:74425400-74483200	Weak transcription	A549	lung
4	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
6	chr6:74441400-74473200	Weak transcription	HUVEC	blood vessel
7	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
8	chr6:74442200-74473400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:74443400-74484000	Weak transcription	Left Ventricle	heart
11	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:74444400-74474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:74448800-74483400	Weak transcription	NHEK	skin
14	chr6:74453600-74479400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:74456000-74468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:74456800-74483800	Weak transcription	NHLF	lung
17	chr6:74457200-74472400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:74457200-74484000	Weak transcription	Adipose Nuclei	Adipose
19	chr6:74457400-74465400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:74457400-74475400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:74457600-74469000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:74457800-74477600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:74458000-74464800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:74458800-74468600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:74460000-74462400	Enhancers	Rectal Smooth Muscle	rectum
26	chr6:74460000-74463800	Enhancers	Colon Smooth Muscle	Colon
27	chr6:74460600-74465200	Strong transcription	NHDF-Ad	bronchial
28	chr6:74460800-74463000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:74461400-74474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:74461600-74469000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:74461600-74472800	Weak transcription	HMEC	breast
32	chr6:74461800-74462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:74461800-74465200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:74461800-74472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:74461800-74473600	Weak transcription	Primary hematopoietic stem cells	blood

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