Variant report

Variant	rs73927849
Chromosome Location	chr2:46727564-46727565
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46705265..46709008-chr2:46724758..46728950,5	K562	blood:
2	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
3	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
4	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
5	chr2:46727160..46729338-chr2:46730386..46733073,2	K562	blood:
6	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:

Variant related genes	Relation type
ENSG00000187600	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55680262	0.83[AFR][1000 genomes]
rs55770522	0.83[AFR][1000 genomes]
rs55775849	1.00[AFR][1000 genomes]
rs55857444	0.83[AFR][1000 genomes]
rs55939277	1.00[AFR][1000 genomes]
rs56194963	0.83[AFR][1000 genomes]
rs56290425	0.86[AFR][1000 genomes]
rs56365783	0.86[AFR][1000 genomes]
rs56678855	0.86[AFR][1000 genomes]
rs57134197	0.83[AFR][1000 genomes]
rs57453502	0.83[AFR][1000 genomes]
rs58143719	0.83[AFR][1000 genomes]
rs58395052	0.83[AFR][1000 genomes]
rs59253102	0.86[AFR][1000 genomes]
rs60086470	0.83[AFR][1000 genomes]
rs60100807	0.83[AFR][1000 genomes]
rs61065239	0.86[AFR][1000 genomes]
rs61169200	0.86[AFR][1000 genomes]
rs73927843	0.86[AFR][1000 genomes]
rs73927846	1.00[AFR][1000 genomes]
rs73927847	0.86[AFR][1000 genomes]
rs73927872	1.00[AFR][1000 genomes]
rs73927876	0.86[AFR][1000 genomes]
rs73929731	0.83[AFR][1000 genomes]
rs873532	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1000129	chr2:46723102-46733814	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46726400-46727800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:46726600-46727600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:46726600-46727600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
4	chr2:46726600-46727600	Active TSS	Primary T cells from cord blood	blood
5	chr2:46726600-46727600	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr2:46726600-46727600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr2:46726600-46727600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:46726600-46727600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr2:46726600-46727600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:46726600-46727600	Active TSS	Adipose Nuclei	Adipose
11	chr2:46726600-46727600	Active TSS	Brain Angular Gyrus	brain
12	chr2:46726600-46727600	Active TSS	Brain Substantia Nigra	brain
13	chr2:46726600-46727600	Active TSS	Ovary	ovary
14	chr2:46726600-46727600	Active TSS	Hela-S3	cervix
15	chr2:46726600-46727600	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr2:46726600-46727600	Active TSS	NHDF-Ad	bronchial
17	chr2:46726600-46727800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:46726600-46727800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:46726600-46727800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:46726600-46727800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:46726600-46727800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:46726600-46727800	Active TSS	Aorta	Aorta
23	chr2:46726600-46727800	Active TSS	Brain Hippocampus Middle	brain
24	chr2:46726600-46727800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:46726600-46727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:46726600-46727800	Active TSS	Colonic Mucosa	Colon
27	chr2:46726600-46727800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr2:46726600-46727800	Active TSS	Fetal Kidney	kidney
29	chr2:46726600-46727800	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:46726600-46727800	Active TSS	Right Atrium	heart
31	chr2:46726600-46727800	Active TSS	Right Ventricle	heart
32	chr2:46726600-46727800	Active TSS	A549	lung
33	chr2:46726600-46727800	Flanking Bivalent TSS/Enh	Dnd41	blood
34	chr2:46726600-46727800	Flanking Active TSS	HUVEC	blood vessel
35	chr2:46726600-46727800	Active TSS	K562	blood
36	chr2:46726600-46728000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:46726600-46728000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:46726600-46728000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:46726600-46728000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:46726800-46727600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:46726800-46727600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:46726800-46727600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:46726800-46727600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:46726800-46727600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:46726800-46727600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:46726800-46727600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr2:46726800-46727600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:46726800-46727600	Active TSS	Colon Smooth Muscle	Colon
49	chr2:46726800-46727600	Active TSS	Esophagus	oesophagus
50	chr2:46726800-46727600	Active TSS	Fetal Brain Female	brain

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