Variant report

Variant	rs73183116
Chromosome Location	chr2:11879521-11879522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11872902..11874772-chr2:11878776..11881694,2	K562	blood:
2	chr2:11879500..11881190-chr2:11886379..11888798,2	MCF-7	breast:
3	chr2:11872902..11875689-chr2:11878776..11880592,2	K562	blood:
4	chr2:11850515..11852161-chr2:11877592..11880491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16855583	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16857843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4076516	0.93[AFR][1000 genomes]
rs73181399	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183104	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73183121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73185104	0.94[AFR][1000 genomes]
rs871674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893351	1.00[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	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	7 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	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:11877000-11882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11877000-11883400	Weak transcription	Right Atrium	heart
4	chr2:11878400-11879600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:11878400-11880000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:11878600-11879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:11878600-11879600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:11878600-11879600	Enhancers	Liver	Liver
9	chr2:11878600-11879600	Enhancers	Placenta	Placenta
10	chr2:11878600-11879600	Enhancers	A549	lung
11	chr2:11878600-11879600	Enhancers	Osteobl	bone
12	chr2:11878600-11879800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:11878600-11879800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:11878600-11879800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:11878600-11879800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:11878600-11879800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:11878600-11879800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:11878600-11879800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:11878600-11879800	Enhancers	NHLF	lung
20	chr2:11878600-11880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:11878600-11880400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:11878800-11879600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:11878800-11879600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:11878800-11879600	Enhancers	HUVEC	blood vessel
25	chr2:11878800-11879600	Enhancers	NHEK	skin
26	chr2:11878800-11879800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:11878800-11879800	Enhancers	NHDF-Ad	bronchial
28	chr2:11878800-11882800	Weak transcription	Fetal Thymus	thymus
29	chr2:11879000-11879600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:11879000-11879600	Enhancers	NH-A	brain
31	chr2:11879000-11883400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:11879000-11883400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:11879000-11883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:11879000-11883600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:11879000-11883800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:11879200-11879600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:11879200-11880000	Enhancers	Hela-S3	cervix
38	chr2:11879200-11881000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:11879200-11882400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:11879200-11883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:11879200-11883000	Weak transcription	Psoas Muscle	Psoas
42	chr2:11879200-11883200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:11879200-11883400	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:11879200-11883400	Weak transcription	Stomach Mucosa	stomach
45	chr2:11879200-11883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:11879200-11883600	Weak transcription	Ovary	ovary
47	chr2:11879200-11883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:11879200-11883800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:11879200-11883800	Weak transcription	Fetal Lung	lung
50	chr2:11879200-11883800	Weak transcription	Right Ventricle	heart

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