Variant report

Variant	rs2002482
Chromosome Location	chr21:45137853-45137854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45137836-45137869	LNCaP	prostate:	n/a	n/a
2	POLR2A	chr21:45137690-45137881	K562	blood:	n/a	n/a
3	JUN	chr21:45137800-45139987	K562	blood:	n/a	n/a
4	MXI1	chr21:45137840-45140315	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
2	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
3	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
4	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
5	chr21:44527246..44529052-chr21:45137735..45140365,2	K562	blood:
6	chr21:45113016..45114535-chr21:45136348..45138090,2	MCF-7	breast:
7	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
8	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
9	chr21:45136545..45138543-chr21:45189331..45190847,2	K562	blood:
10	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
11	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000232969	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160201	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160226	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11909215	0.91[EUR][1000 genomes]
rs17004570	1.00[ASN][1000 genomes]
rs1963214	0.99[EUR][1000 genomes]
rs2838356	0.91[EUR][1000 genomes]
rs57734276	1.00[ASN][1000 genomes]
rs7277065	0.91[EUR][1000 genomes]
rs7280268	0.88[EUR][1000 genomes]
rs73369494	0.91[EUR][1000 genomes]
rs73906595	1.00[ASN][1000 genomes]
rs73908360	1.00[ASN][1000 genomes]
rs8127229	0.89[EUR][1000 genomes]
rs8128206	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	esv3387851	chr21:45137749-45140297	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45123200-45138200	Weak transcription	Ovary	ovary
2	chr21:45123600-45138400	Weak transcription	Right Atrium	heart
3	chr21:45131400-45138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:45132400-45138000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45132400-45138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45132800-45138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:45132800-45138000	Weak transcription	Liver	Liver
8	chr21:45132800-45138000	Weak transcription	Esophagus	oesophagus
9	chr21:45132800-45138000	Weak transcription	Pancreas	Pancrea
10	chr21:45132800-45138200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:45133000-45138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45133000-45138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:45133000-45138000	Weak transcription	Osteobl	bone
14	chr21:45133000-45138200	Weak transcription	Adipose Nuclei	Adipose
15	chr21:45133200-45138000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:45133200-45138000	Weak transcription	HMEC	breast
17	chr21:45133200-45138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:45133800-45138200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:45134000-45138000	Weak transcription	Hela-S3	cervix
20	chr21:45135600-45138000	Enhancers	A549	lung
21	chr21:45135800-45138000	Enhancers	HepG2	liver
22	chr21:45135800-45138400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr21:45136000-45138000	Weak transcription	Spleen	Spleen
24	chr21:45136000-45138200	Enhancers	Primary B cells from cord blood	blood
25	chr21:45136000-45138400	Enhancers	HSMM	muscle
26	chr21:45136000-45138400	Enhancers	HSMMtube	muscle
27	chr21:45136200-45138200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:45136400-45138000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:45136400-45138400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:45136600-45138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:45136600-45138000	Enhancers	Duodenum Mucosa	Duodenum
32	chr21:45136600-45138200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:45136800-45138200	Weak transcription	NHLF	lung
34	chr21:45136800-45138400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr21:45137000-45138000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr21:45137000-45138000	Weak transcription	K562	blood
37	chr21:45137000-45138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:45137000-45138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:45137200-45138200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr21:45137400-45138000	Enhancers	Stomach Mucosa	stomach
41	chr21:45137400-45138000	Enhancers	GM12878-XiMat	blood
42	chr21:45137400-45138200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:45137400-45138200	Enhancers	Fetal Intestine Small	intestine
44	chr21:45137400-45138200	Enhancers	Placenta	Placenta
45	chr21:45137400-45138200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr21:45137600-45138000	Weak transcription	Lung	lung
47	chr21:45137600-45138400	Weak transcription	NHDF-Ad	bronchial
48	chr21:45137800-45138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:45137800-45138000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr21:45137800-45138000	Enhancers	Fetal Intestine Large	intestine

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