Variant report

Variant	rs2839263
Chromosome Location	chr21:47863522-47863523
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47863341..47867435-chr21:47876892..47880530,6	MCF-7	breast:
2	chr21:47850253..47852501-chr21:47862918..47865915,2	MCF-7	breast:
3	chr21:47862357..47865195-chr21:47870982..47877612,5	K562	blood:
4	chr21:47860237..47862414-chr21:47862765..47864935,2	K562	blood:
5	chr21:47856896..47861737-chr21:47863435..47865774,4	K562	blood:
6	chr21:47829908..47831983-chr21:47862794..47864924,2	K562	blood:
7	chr21:47858571..47860642-chr21:47862519..47864961,2	MCF-7	breast:
8	chr21:47863005..47865990-chr21:47875934..47878581,2	MCF-7	breast:
9	chr21:47862980..47864520-chr21:47866153..47868184,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160299	Chromatin interaction
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11911621	0.90[EUR][1000 genomes]
rs11911834	0.90[EUR][1000 genomes]
rs2154586	0.90[EUR][1000 genomes]
rs2839354	0.90[EUR][1000 genomes]
rs28802698	0.84[AFR][1000 genomes]
rs28803288	0.90[EUR][1000 genomes]
rs28856972	0.84[AFR][1000 genomes]
rs59374074	0.90[EUR][1000 genomes]
rs61233465	0.90[EUR][1000 genomes]
rs73379572	0.90[EUR][1000 genomes]
rs73381173	1.00[ASN][1000 genomes]
rs8132727	0.90[EUR][1000 genomes]
rs8133340	0.90[EUR][1000 genomes]
rs8133385	0.90[EUR][1000 genomes]
rs8134905	0.90[EUR][1000 genomes]
rs9941895	0.90[EUR][1000 genomes]
rs9974760	0.90[EUR][1000 genomes]
rs9975297	0.90[EUR][1000 genomes]
rs9975589	0.90[EUR][1000 genomes]
rs9976401	0.90[EUR][1000 genomes]
rs9977065	0.90[EUR][1000 genomes]
rs9980223	0.90[EUR][1000 genomes]
rs9980532	0.90[EUR][1000 genomes]
rs9981125	0.90[EUR][1000 genomes]
rs9983644	0.90[EUR][1000 genomes]
rs9983698	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
12	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
13	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
14	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
15	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
16	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
17	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
18	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
19	nsv914140	chr21:47712185-47866227	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
20	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
21	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
22	nsv914142	chr21:47772468-47866227	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
23	nsv914144	chr21:47792874-47866227	Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
24	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
25	nsv914145	chr21:47804438-47866227	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
26	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
27	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
28	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
29	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
30	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
2	chr21:47827400-47866600	Strong transcription	Fetal Stomach	stomach
3	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:47829600-47864000	Strong transcription	Fetal Intestine Small	intestine
6	chr21:47834000-47868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:47834200-47868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:47836800-47872400	Weak transcription	Right Atrium	heart
9	chr21:47843400-47867400	Strong transcription	Dnd41	blood
10	chr21:47843800-47867600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:47843800-47868400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:47844000-47864400	Strong transcription	Gastric	stomach
13	chr21:47844200-47866800	Strong transcription	Brain Germinal Matrix	brain
14	chr21:47844200-47867400	Strong transcription	Fetal Brain Female	brain
15	chr21:47844800-47865800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:47844800-47867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:47845200-47863800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:47845200-47867400	Strong transcription	Thymus	Thymus
19	chr21:47845400-47867400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:47845600-47867200	Strong transcription	Fetal Muscle Leg	muscle
21	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:47846400-47865600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:47846600-47864200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr21:47847000-47865600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47847000-47865600	Strong transcription	Liver	Liver
26	chr21:47847200-47864000	Strong transcription	Ovary	ovary
27	chr21:47847600-47866800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr21:47848200-47863800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:47850000-47864400	Strong transcription	NHEK	skin
30	chr21:47851000-47876000	Weak transcription	Small Intestine	intestine
31	chr21:47852200-47867800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr21:47853200-47866800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:47854000-47864400	Strong transcription	Colonic Mucosa	Colon
34	chr21:47854000-47864400	Strong transcription	NHLF	lung
35	chr21:47854000-47865000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr21:47854000-47866000	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr21:47854000-47868000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:47854200-47864400	Strong transcription	Pancreas	Pancrea
39	chr21:47854200-47864600	Strong transcription	Aorta	Aorta
40	chr21:47854400-47866400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:47854600-47865800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr21:47854600-47866600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr21:47854600-47866800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr21:47854800-47863800	Strong transcription	Esophagus	oesophagus
45	chr21:47854800-47863800	Strong transcription	Lung	lung
46	chr21:47855600-47865000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr21:47855600-47865800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:47855800-47865000	Strong transcription	HMEC	breast
49	chr21:47856400-47865800	Strong transcription	Hela-S3	cervix
50	chr21:47856800-47864000	Strong transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links