Variant report

Variant	rs72955220
Chromosome Location	chr6:74455383-74455384
allele	C/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]
rs55959929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56008556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72955210	1.00[AMR][1000 genomes]
rs72955215	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72955217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72955226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72955229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957314	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72957315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72957325	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72957357	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72957379	0.85[AMR][1000 genomes];0.93[EUR][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:44 , 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	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
5	chr6:74433000-74456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:74433000-74456400	Weak transcription	HSMM	muscle
7	chr6:74433400-74456400	Weak transcription	NHLF	lung
8	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
9	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
10	chr6:74441400-74473200	Weak transcription	HUVEC	blood vessel
11	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
12	chr6:74442200-74455800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:74442200-74473400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:74443400-74484000	Weak transcription	Left Ventricle	heart
16	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:74444400-74474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:74445400-74456200	Weak transcription	Osteobl	bone
19	chr6:74446600-74455400	Weak transcription	Fetal Lung	lung
20	chr6:74447200-74456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:74448400-74455800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:74448800-74455800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:74448800-74456400	Weak transcription	Adipose Nuclei	Adipose
24	chr6:74448800-74483400	Weak transcription	NHEK	skin
25	chr6:74452200-74456200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:74452200-74456600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:74453600-74479400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:74453800-74455800	Weak transcription	NHDF-Ad	bronchial
29	chr6:74453800-74456000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:74453800-74456000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:74454000-74456000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:74454200-74457400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:74454400-74455400	Enhancers	HMEC	breast
34	chr6:74454400-74455600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:74454600-74455800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:74454600-74456600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:74454800-74458400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:74455000-74455400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:74455200-74455400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:74455200-74455400	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr6:74455200-74455400	Enhancers	Colon Smooth Muscle	Colon
42	chr6:74455200-74456400	Weak transcription	GM12878-XiMat	blood
43	chr6:74455200-74457200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:74455200-74458200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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