Variant report

Variant	rs73373844
Chromosome Location	chr21:47736212-47736213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47736065-47736263	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr21:47736096-47736689	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
2	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
3	chr21:47734345..47736656-chr21:47877993..47879993,2	K562	blood:
4	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
5	chr21:47705068..47711362-chr21:47735611..47740059,7	MCF-7	breast:

No data

Variant related genes	Relation type
C21orf58	TF binding region
ENSG00000160294	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10483082	1.00[ASN][1000 genomes]
rs11909415	1.00[ASN][1000 genomes]
rs11910341	1.00[ASN][1000 genomes]
rs11910459	1.00[ASN][1000 genomes]
rs12106325	1.00[ASN][1000 genomes]
rs16979206	1.00[ASN][1000 genomes]
rs16979207	1.00[ASN][1000 genomes]
rs2839213	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2839214	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2839216	1.00[ASN][1000 genomes]
rs2839221	1.00[ASN][1000 genomes]
rs28802698	1.00[ASN][1000 genomes]
rs28856972	1.00[ASN][1000 genomes]
rs56077060	1.00[ASN][1000 genomes]
rs57134378	1.00[ASN][1000 genomes]
rs57936960	1.00[ASN][1000 genomes]
rs58228841	1.00[ASN][1000 genomes]
rs58468580	1.00[ASN][1000 genomes]
rs59691259	1.00[ASN][1000 genomes]
rs60091558	1.00[ASN][1000 genomes]
rs60455426	1.00[ASN][1000 genomes]
rs61407822	1.00[ASN][1000 genomes]
rs6518290	1.00[ASN][1000 genomes]
rs7278766	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282858	1.00[ASN][1000 genomes]
rs73371913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73372056	1.00[ASN][1000 genomes]
rs73373837	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73373855	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73373860	1.00[ASN][1000 genomes]
rs73379336	1.00[ASN][1000 genomes]
rs73379382	1.00[ASN][1000 genomes]
rs73381193	1.00[ASN][1000 genomes]
rs73381196	1.00[ASN][1000 genomes]
rs73383320	1.00[ASN][1000 genomes]
rs73383347	1.00[ASN][1000 genomes]
rs73907470	1.00[ASN][1000 genomes]
rs73907473	1.00[ASN][1000 genomes]
rs73907474	1.00[ASN][1000 genomes]
rs8129476	1.00[ASN][1000 genomes]
rs881923	1.00[ASN][1000 genomes]
rs9680343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	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
15	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
16	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
17	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
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	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
20	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
21	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
22	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
24	nsv914135	chr21:47681041-47762374	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
25	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
26	nsv1064588	chr21:47700051-47788823	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
27	nsv544496	chr21:47700051-47788823	Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
28	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
29	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
30	nsv914139	chr21:47706737-47786494	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
31	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
32	nsv914141	chr21:47712412-47757419	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47716800-47738600	Weak transcription	HepG2	liver
2	chr21:47717800-47739600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:47718200-47737400	Weak transcription	Fetal Heart	heart
4	chr21:47718200-47737800	Weak transcription	Colonic Mucosa	Colon
5	chr21:47718200-47740800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr21:47718200-47742000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr21:47718200-47742200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr21:47718400-47737600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:47718400-47737600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:47718400-47737600	Weak transcription	Right Ventricle	heart
11	chr21:47718400-47737800	Weak transcription	Left Ventricle	heart
12	chr21:47718400-47740200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:47718400-47740600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr21:47718400-47741600	Weak transcription	Fetal Brain Male	brain
15	chr21:47718400-47742200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr21:47718400-47742200	Weak transcription	Right Atrium	heart
17	chr21:47718600-47738000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr21:47719000-47738200	Strong transcription	Fetal Stomach	stomach
19	chr21:47719000-47738800	Strong transcription	Dnd41	blood
20	chr21:47719200-47738800	Strong transcription	Fetal Thymus	thymus
21	chr21:47719600-47739400	Strong transcription	Thymus	Thymus
22	chr21:47719600-47740200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:47720200-47740600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr21:47722400-47742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:47722400-47742200	Weak transcription	Gastric	stomach
26	chr21:47722600-47736600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr21:47724400-47739600	Strong transcription	Fetal Muscle Leg	muscle
28	chr21:47725000-47740400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:47725000-47742200	Weak transcription	Adipose Nuclei	Adipose
30	chr21:47725000-47742200	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:47725000-47742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr21:47725000-47742400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr21:47725200-47737000	Weak transcription	Spleen	Spleen
34	chr21:47725200-47737200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr21:47725200-47737400	Weak transcription	GM12878-XiMat	blood
36	chr21:47725200-47737800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr21:47725200-47738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:47725200-47740000	Weak transcription	Hela-S3	cervix
39	chr21:47725200-47740600	Weak transcription	Primary B cells from cord blood	blood
40	chr21:47725200-47740600	Weak transcription	NHEK	skin
41	chr21:47725200-47741200	Weak transcription	Fetal Kidney	kidney
42	chr21:47725200-47741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr21:47725200-47741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:47725200-47742000	Weak transcription	Ovary	ovary
45	chr21:47725200-47742200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr21:47725200-47742600	Weak transcription	Brain Substantia Nigra	brain
47	chr21:47725400-47741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr21:47726200-47737200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr21:47727200-47737200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:47727400-47736400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links