Variant report

Variant	rs1963214
Chromosome Location	chr21:45137659-45137660
allele	G/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
2	chr21:45136006..45137816-chr21:45211885..45214018,2	MCF-7	breast:
3	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
4	chr21:45137354..45140305-chr21:45163614..45165870,3	MCF-7	breast:
5	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
6	chr21:45113016..45114535-chr21:45136348..45138090,2	MCF-7	breast:
7	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
8	chr21:45136545..45138543-chr21:45189331..45190847,2	K562	blood:
9	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
10	chr21:45136716..45139544-chr3:64006873..64009163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160213	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000163636	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11909215	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2002482	0.99[EUR][1000 genomes]
rs2838356	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7277065	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7280268	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73369494	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs743464	0.93[AFR][1000 genomes]
rs8127229	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8128206	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

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	chr21:45133800-45137800	Weak transcription	Fetal Intestine Large	intestine
19	chr21:45133800-45138200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr21:45134000-45138000	Weak transcription	Hela-S3	cervix
21	chr21:45135600-45138000	Enhancers	A549	lung
22	chr21:45135800-45138000	Enhancers	HepG2	liver
23	chr21:45135800-45138400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr21:45136000-45138000	Weak transcription	Spleen	Spleen
25	chr21:45136000-45138200	Enhancers	Primary B cells from cord blood	blood
26	chr21:45136000-45138400	Enhancers	HSMM	muscle
27	chr21:45136000-45138400	Enhancers	HSMMtube	muscle
28	chr21:45136200-45138200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:45136400-45138000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:45136400-45138400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:45136600-45138000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:45136600-45138000	Enhancers	Duodenum Mucosa	Duodenum
33	chr21:45136600-45138200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:45136800-45138200	Weak transcription	NHLF	lung
35	chr21:45136800-45138400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr21:45137000-45138000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr21:45137000-45138000	Weak transcription	K562	blood
38	chr21:45137000-45138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:45137000-45138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:45137200-45138200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:45137400-45137800	Weak transcription	Colonic Mucosa	Colon
42	chr21:45137400-45138000	Enhancers	Stomach Mucosa	stomach
43	chr21:45137400-45138000	Enhancers	GM12878-XiMat	blood
44	chr21:45137400-45138200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:45137400-45138200	Enhancers	Fetal Intestine Small	intestine
46	chr21:45137400-45138200	Enhancers	Placenta	Placenta
47	chr21:45137400-45138200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr21:45137600-45138000	Weak transcription	Lung	lung
49	chr21:45137600-45138400	Weak transcription	NHDF-Ad	bronchial

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