Variant report

Variant	rs73227983
Chromosome Location	chr13:76388343-76388344
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	chr13:76386406..76389041-chr13:76432929..76434756,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11616640	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13378536	0.81[AMR][1000 genomes]
rs41287014	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs41307595	0.81[AMR][1000 genomes]
rs73227994	0.86[AMR][1000 genomes]
rs73229911	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73229981	0.93[AMR][1000 genomes]
rs73230001	0.81[AMR][1000 genomes]
rs9318382	0.81[AMR][1000 genomes]
rs9318383	0.81[AMR][1000 genomes]
rs9573666	0.81[AMR][1000 genomes]
rs9593139	0.81[AMR][1000 genomes]
rs9600589	0.86[AMR][1000 genomes]
rs9600591	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS 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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
3	chr13:76373000-76414600	Weak transcription	HMEC	breast
4	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:76377400-76395000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:76377600-76395200	Weak transcription	GM12878-XiMat	blood
7	chr13:76377600-76398600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:76377600-76415800	Weak transcription	Dnd41	blood
9	chr13:76377600-76416200	Weak transcription	A549	lung
10	chr13:76378200-76397800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:76378200-76415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:76378400-76392200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:76378400-76415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr13:76378800-76393200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:76379200-76394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:76380600-76388600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:76380600-76395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:76380600-76397800	Weak transcription	Colonic Mucosa	Colon
19	chr13:76380600-76397800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr13:76380600-76398000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:76380600-76400400	Weak transcription	Esophagus	oesophagus
22	chr13:76380600-76405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:76380800-76391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:76380800-76392800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:76380800-76397800	Weak transcription	Brain Anterior Caudate	brain
26	chr13:76381000-76392400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:76382400-76388400	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:76382400-76391000	Weak transcription	Liver	Liver
29	chr13:76382400-76392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:76382400-76392400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:76382400-76392400	Weak transcription	NHLF	lung
32	chr13:76382600-76392400	Weak transcription	Fetal Intestine Small	intestine
33	chr13:76382800-76391400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr13:76383200-76391400	Weak transcription	NH-A	brain
35	chr13:76384000-76389200	Enhancers	Fetal Thymus	thymus
36	chr13:76384200-76390600	Genic enhancers	Osteobl	bone
37	chr13:76384600-76390400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:76385800-76388400	Weak transcription	Right Atrium	heart
39	chr13:76385800-76389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr13:76385800-76391200	Weak transcription	Hela-S3	cervix
41	chr13:76386000-76388400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:76386800-76390600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:76387200-76388400	Strong transcription	NHDF-Ad	bronchial
44	chr13:76387200-76389000	Enhancers	Psoas Muscle	Psoas
45	chr13:76387200-76391200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr13:76387400-76389000	Enhancers	Fetal Lung	lung
47	chr13:76387400-76389000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr13:76387400-76389200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:76387400-76390200	Enhancers	Right Ventricle	heart
50	chr13:76387400-76402000	Weak transcription	HUVEC	blood vessel

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