Variant report

Variant	rs72881382
Chromosome Location	chr2:46935254-46935255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46933593..46936563-chr2:46968141..46970927,2	K562	blood:
2	chr2:46925096..46927639-chr2:46929889..46935400,5	MCF-7	breast:
3	chr2:46924668..46928828-chr2:46932943..46938478,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs41444751	1.00[AMR][1000 genomes]
rs41468249	1.00[AMR][1000 genomes]
rs41481545	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41533648	1.00[AMR][1000 genomes]
rs59115499	1.00[AMR][1000 genomes]
rs60426444	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6715737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72881388	1.00[AMR][1000 genomes]
rs72881392	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72881398	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882805	1.00[AMR][1000 genomes]
rs72882817	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882829	1.00[AMR][1000 genomes]
rs7598569	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	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
2	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
3	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
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46927200-46935800	Weak transcription	Spleen	Spleen
2	chr2:46927800-46940000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:46928000-46943600	Weak transcription	Thymus	Thymus
4	chr2:46928600-46944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:46928800-46938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:46928800-46946200	Weak transcription	NHEK	skin
7	chr2:46929000-46940200	Weak transcription	Fetal Stomach	stomach
8	chr2:46930000-46938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:46930400-46936400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:46931200-46938800	Weak transcription	Primary B cells from cord blood	blood
11	chr2:46931400-46935600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:46931800-46936800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:46932000-46935400	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:46932000-46936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:46932000-46936200	Weak transcription	GM12878-XiMat	blood
16	chr2:46932000-46936400	Enhancers	Adipose Nuclei	Adipose
17	chr2:46932400-46936800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:46932400-46937000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:46932400-46938800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:46932600-46935400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:46932600-46935800	Weak transcription	Gastric	stomach
22	chr2:46932600-46935800	Weak transcription	Pancreas	Pancrea
23	chr2:46932600-46944200	Weak transcription	Aorta	Aorta
24	chr2:46932800-46936000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:46933000-46936400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:46933000-46943600	Weak transcription	Left Ventricle	heart
27	chr2:46933200-46936800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:46933400-46936400	Weak transcription	Fetal Lung	lung
29	chr2:46933800-46936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:46933800-46936600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:46933800-46936800	Enhancers	A549	lung
32	chr2:46933800-46936800	Enhancers	HepG2	liver
33	chr2:46933800-46937000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:46934000-46936200	Weak transcription	Right Ventricle	heart
35	chr2:46934000-46937000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:46934000-46944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:46934200-46936600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:46934400-46935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:46934400-46935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:46934400-46935600	Active TSS	NHLF	lung
42	chr2:46934400-46935800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:46934400-46935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:46934400-46935800	Weak transcription	Psoas Muscle	Psoas
45	chr2:46934400-46935800	Weak transcription	Right Atrium	heart
46	chr2:46934400-46943600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:46934600-46935800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:46934600-46936400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:46934600-46937200	Enhancers	Osteobl	bone
50	chr2:46934600-46938000	Enhancers	NHDF-Ad	bronchial

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