Variant report

Variant	rs12482344
Chromosome Location	chr21:46439279-46439280
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46437084..46440901-chr21:46492092..46496005,8	K562	blood:
2	chr21:46435476..46441041-chr21:46492347..46496341,11	K562	blood:
3	chr21:46435393..46438369-chr21:46438392..46443005,5	K562	blood:
4	chr21:46437786..46443375-chr21:46492989..46495886,7	MCF-7	breast:
5	chr21:46438270..46441170-chr21:46454432..46456069,2	MCF-7	breast:
6	chr11:75109351..75111789-chr21:46437907..46439514,2	MCF-7	breast:
7	chr21:46419011..46421776-chr21:46438600..46440375,2	MCF-7	breast:
8	chr21:46438794..46441460-chr21:46493468..46496143,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206941	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12481846	1.00[EUR][1000 genomes]
rs12481951	1.00[EUR][1000 genomes]
rs12482292	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482351	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482438	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482553	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482694	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482885	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482972	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483085	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483122	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483152	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483276	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483285	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483595	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12483723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913993	chr21:46376528-46448142	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
20	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv913998	chr21:46393090-46441947	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv587818	chr21:46396960-46448253	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv526277	chr21:46408790-46440385	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	esv3325446	chr21:46437549-46440397	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
29	esv3359812	chr21:46437599-46440422	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46436200-46441200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr21:46436800-46440200	Enhancers	NH-A	brain
3	chr21:46437200-46439400	Enhancers	Esophagus	oesophagus
4	chr21:46437200-46439600	Enhancers	HMEC	breast
5	chr21:46438000-46439400	Enhancers	Lung	lung
6	chr21:46438000-46439600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr21:46438000-46439600	Enhancers	Pancreas	Pancrea
8	chr21:46438200-46439400	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr21:46438200-46439400	Active TSS	Rectal Smooth Muscle	rectum
10	chr21:46438200-46442600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr21:46438400-46439400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:46438400-46439400	Active TSS	Colon Smooth Muscle	Colon
13	chr21:46438600-46439400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:46438600-46439400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:46438600-46439400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:46438600-46439400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:46438600-46439400	Enhancers	Adipose Nuclei	Adipose
18	chr21:46438600-46439400	Active TSS	Brain Germinal Matrix	brain
19	chr21:46438600-46440200	Weak transcription	Gastric	stomach
20	chr21:46438600-46440400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:46438600-46453000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr21:46438800-46439400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:46438800-46440200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:46438800-46440800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:46439000-46439400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:46439000-46439400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:46439000-46439400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:46439000-46439400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:46439000-46439400	Flanking Active TSS	Right Ventricle	heart
30	chr21:46439000-46439600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr21:46439000-46440000	Active TSS	Hela-S3	cervix
32	chr21:46439000-46441200	Enhancers	HSMM	muscle
33	chr21:46439000-46442200	Enhancers	Spleen	Spleen
34	chr21:46439200-46439400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:46439200-46439400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46439200-46439400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:46439200-46439400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:46439200-46439400	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr21:46439200-46439400	Bivalent Enhancer	Fetal Brain Male	brain
40	chr21:46439200-46439400	Enhancers	Fetal Heart	heart
41	chr21:46439200-46439400	Enhancers	Left Ventricle	heart
42	chr21:46439200-46439400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr21:46439200-46439400	Flanking Active TSS	Osteobl	bone
44	chr21:46439200-46439600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr21:46439200-46439600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr21:46439200-46439600	Enhancers	HUVEC	blood vessel
47	chr21:46439200-46439800	Bivalent Enhancer	Placenta	Placenta
48	chr21:46439200-46440000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr21:46439200-46440200	Weak transcription	Right Atrium	heart
50	chr21:46439200-46441200	Enhancers	HSMMtube	muscle

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