Variant report

Variant	rs72957379
Chromosome Location	chr6:74506294-74506295
allele	C/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: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3764240	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41309296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959929	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56008556	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72955210	0.85[AMR][1000 genomes]
rs72955215	0.85[AMR][1000 genomes]
rs72955217	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72955220	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72955226	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72955229	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72957314	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957315	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957325	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72957357	1.00[AMR][1000 genomes];1.00[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	esv14810	chr6:74504214-74506345	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 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	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
5	chr6:74477400-74543400	Weak transcription	Lung	lung
6	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
9	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
10	chr6:74484800-74512600	Weak transcription	HSMM	muscle
11	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
15	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:74491600-74508000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:74492400-74510800	Weak transcription	A549	lung
19	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
20	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
22	chr6:74496800-74528800	Weak transcription	Dnd41	blood
23	chr6:74499000-74507000	Weak transcription	NHLF	lung
24	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
25	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:74499200-74520200	Weak transcription	NHEK	skin
27	chr6:74499600-74506600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
30	chr6:74501200-74508000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:74503200-74506400	Weak transcription	Osteobl	bone
34	chr6:74503200-74520600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:74503400-74506400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:74503400-74520400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
38	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:74503600-74520800	Weak transcription	Adipose Nuclei	Adipose
40	chr6:74503800-74508000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:74503800-74526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:74504400-74506600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:74505200-74508200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:74505400-74508400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:74505800-74506800	Genic enhancers	NHDF-Ad	bronchial
46	chr6:74505800-74507200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:74505800-74507800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:74505800-74509200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:74506000-74506400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:74506000-74506600	Strong transcription	HUVEC	blood vessel

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