Variant report

Variant	rs72946446
Chromosome Location	chr2:98430078-98430079
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	chr2:98428768..98431337-chr2:98613628..98615730,2	K562	blood:
2	chr2:98427579..98430220-chr2:98610918..98612535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs2071038	1.00[AMR][1000 genomes]
rs2290123	1.00[AMR][1000 genomes]
rs2922614	1.00[AMR][1000 genomes]
rs4069515	1.00[AMR][1000 genomes]
rs58184071	1.00[AMR][1000 genomes]
rs58332522	0.97[AFR][1000 genomes]
rs58738348	1.00[AMR][1000 genomes]
rs59168350	1.00[AMR][1000 genomes]
rs59294983	0.80[AFR][1000 genomes]
rs59523945	1.00[AMR][1000 genomes]
rs59646872	0.80[AFR][1000 genomes]
rs60753457	1.00[AMR][1000 genomes]
rs61043662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542982	1.00[AMR][1000 genomes]
rs6543062	0.97[AFR][1000 genomes]
rs6716208	1.00[AMR][1000 genomes]
rs6739810	0.87[AFR][1000 genomes]
rs6753752	1.00[AMR][1000 genomes]
rs72942846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942852	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942859	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942873	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944400	0.80[AFR][1000 genomes]
rs72944402	1.00[AFR][1000 genomes]
rs72944837	0.87[AFR][1000 genomes]
rs72944838	0.87[AFR][1000 genomes]
rs72944858	0.84[AFR][1000 genomes]
rs72946404	0.93[AFR][1000 genomes]
rs72946451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947062	1.00[AMR][1000 genomes]
rs72949064	1.00[AMR][1000 genomes]
rs72949085	1.00[AMR][1000 genomes]
rs72949092	1.00[AMR][1000 genomes]
rs72949095	1.00[AMR][1000 genomes]
rs72951139	0.97[AFR][1000 genomes]
rs72951143	0.97[AFR][1000 genomes]
rs72951144	0.97[AFR][1000 genomes]
rs72951153	0.97[AFR][1000 genomes]
rs72951165	1.00[AFR][1000 genomes]
rs72951167	0.94[AFR][1000 genomes]
rs72951170	0.80[AFR][1000 genomes]
rs72951174	0.80[AFR][1000 genomes]
rs7563002	1.00[AMR][1000 genomes]
rs7608385	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
4	chr2:98406400-98469200	Weak transcription	A549	lung
5	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
6	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
7	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
9	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
10	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
13	chr2:98410800-98432000	Weak transcription	Fetal Intestine Small	intestine
14	chr2:98422000-98436200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:98422000-98456200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:98423400-98431000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr2:98423600-98430800	Strong transcription	Fetal Thymus	thymus
18	chr2:98423800-98437200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:98424000-98430800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:98424000-98438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:98424000-98442600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:98424000-98446800	Weak transcription	Fetal Heart	heart
23	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:98424200-98432000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:98424200-98461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:98424400-98430800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr2:98424400-98431000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:98424400-98431000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:98424600-98430800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:98424600-98430800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:98424600-98431000	Strong transcription	Placenta	Placenta
32	chr2:98424600-98431200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:98424600-98432200	Strong transcription	Liver	Liver
34	chr2:98424800-98430800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:98424800-98430800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:98424800-98430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:98424800-98430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:98424800-98430800	Strong transcription	Dnd41	blood
39	chr2:98424800-98431000	Strong transcription	Adipose Nuclei	Adipose
40	chr2:98424800-98431000	Strong transcription	Fetal Intestine Large	intestine
41	chr2:98424800-98432200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:98424800-98432800	Strong transcription	HepG2	liver
43	chr2:98424800-98436600	Strong transcription	Primary B cells from cord blood	blood
44	chr2:98425000-98430800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:98425000-98431000	Strong transcription	GM12878-XiMat	blood
46	chr2:98425200-98431000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:98425400-98430800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:98425400-98430800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:98425600-98432600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:98425600-98456800	Weak transcription	Esophagus	oesophagus

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