Variant report

Variant	rs66486830
Chromosome Location	chr2:47106728-47106729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47104590..47107409-chr2:47107469..47109857,2	K562	blood:
2	chr2:47105936..47108502-chr2:47120489..47122812,2	K562	blood:
3	chr2:47105796..47108295-chr2:47125908..47128016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228925	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6544933	0.86[EUR][1000 genomes]
rs720828	0.84[EUR][1000 genomes]
rs7560018	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	esv3419289	chr2:47103448-47107046	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3360704	chr2:47103648-47107146	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3447978	chr2:47103648-47107146	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47099600-47106800	Enhancers	NHLF	lung
3	chr2:47102200-47108400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:47104000-47106800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:47104200-47106800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:47104400-47109000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:47104600-47108800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:47104800-47107000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:47105000-47108800	Weak transcription	HMEC	breast
10	chr2:47105000-47110000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:47105400-47107000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:47105600-47107000	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:47105600-47107800	Weak transcription	Left Ventricle	heart
14	chr2:47105800-47107200	Enhancers	Brain Anterior Caudate	brain
15	chr2:47105800-47107800	Weak transcription	Right Ventricle	heart
16	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:47106000-47107400	Weak transcription	Fetal Kidney	kidney
18	chr2:47106000-47107800	Weak transcription	Hela-S3	cervix
19	chr2:47106000-47108200	Weak transcription	Colonic Mucosa	Colon
20	chr2:47106000-47110600	Weak transcription	Gastric	stomach
21	chr2:47106200-47107400	Weak transcription	Osteobl	bone
22	chr2:47106200-47107800	Weak transcription	HUVEC	blood vessel
23	chr2:47106200-47107800	Weak transcription	NH-A	brain
24	chr2:47106200-47108000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:47106200-47108200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:47106200-47108400	Weak transcription	Spleen	Spleen
27	chr2:47106200-47108600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:47106400-47107400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:47106400-47107800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:47106400-47107800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:47106400-47107800	Weak transcription	Placenta	Placenta
32	chr2:47106400-47107800	Weak transcription	Lung	lung
33	chr2:47106400-47108200	Weak transcription	Ovary	ovary
34	chr2:47106400-47108200	Weak transcription	Pancreas	Pancrea
35	chr2:47106400-47108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:47106400-47108400	Weak transcription	Right Atrium	heart
37	chr2:47106400-47108800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:47106400-47109600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:47106400-47109600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
41	chr2:47106600-47106800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:47106600-47107000	Weak transcription	A549	lung
43	chr2:47106600-47107800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:47106600-47107800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:47106600-47107800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:47106600-47108200	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:47106600-47108200	Weak transcription	HSMM	muscle
48	chr2:47106600-47108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:47106600-47108400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:47106600-47108400	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links