Variant report

Variant	rs73915489
Chromosome Location	chr2:11838893-11838894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11837517..11840283-chr2:11849750..11852700,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56037558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56266446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56958924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57097271	0.98[AFR][1000 genomes]
rs57245099	0.86[AFR][1000 genomes]
rs58429439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61153226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915500	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11829400-11841800	Weak transcription	Primary B cells from cord blood	blood
2	chr2:11833600-11841800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:11835400-11839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:11836000-11839000	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:11836400-11839000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:11836600-11839000	Enhancers	Esophagus	oesophagus
7	chr2:11836600-11839000	Enhancers	NHDF-Ad	bronchial
8	chr2:11836600-11839000	Enhancers	NHEK	skin
9	chr2:11836600-11839000	Enhancers	NHLF	lung
10	chr2:11836600-11839200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:11836600-11839200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:11836800-11839000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:11836800-11839000	Enhancers	Adipose Nuclei	Adipose
14	chr2:11836800-11839000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:11836800-11839000	Enhancers	Right Ventricle	heart
16	chr2:11836800-11839200	Enhancers	Brain Substantia Nigra	brain
17	chr2:11836800-11839200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:11836800-11839200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:11836800-11839800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:11836800-11843200	Enhancers	Placenta	Placenta
21	chr2:11837000-11839200	Enhancers	Brain Angular Gyrus	brain
22	chr2:11837000-11839200	Enhancers	Fetal Heart	heart
23	chr2:11837200-11839000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:11837400-11839200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:11837400-11840800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:11837600-11839000	Weak transcription	Psoas Muscle	Psoas
27	chr2:11837600-11839200	Enhancers	Brain Hippocampus Middle	brain
28	chr2:11837600-11839200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:11837600-11840800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:11837800-11841200	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:11837800-11843200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:11837800-11845400	Weak transcription	Pancreas	Pancrea
33	chr2:11837800-11848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:11838000-11839000	Enhancers	Liver	Liver
35	chr2:11838000-11839000	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:11838000-11839200	Enhancers	Hela-S3	cervix
37	chr2:11838000-11839200	Enhancers	HSMMtube	muscle
38	chr2:11838000-11842400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:11838000-11842400	Weak transcription	Spleen	Spleen
40	chr2:11838000-11843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:11838000-11843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:11838200-11839400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:11838200-11839600	Weak transcription	Right Atrium	heart
44	chr2:11838200-11842000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:11838200-11843400	Weak transcription	HMEC	breast
46	chr2:11838400-11839000	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:11838400-11839000	Enhancers	K562	blood
48	chr2:11838400-11839200	Enhancers	Fetal Lung	lung
49	chr2:11838400-11839200	Enhancers	Fetal Stomach	stomach
50	chr2:11838400-11839200	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links