Variant report

Variant	rs4819337
Chromosome Location	chr21:45287501-45287502
allele	C/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	chr21:45287059..45290436-chr21:45298345..45302746,3	MCF-7	breast:
2	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
3	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
4	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
5	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
6	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
7	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
8	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
9	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
10	chr21:45285418..45288376-chr21:45321880..45324021,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11700575	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12397630	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838433	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838434	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3788075	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4819326	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819330	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819331	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819332	0.83[ASN][1000 genomes]
rs4819333	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819338	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819339	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819341	0.82[AMR][1000 genomes]
rs55939443	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56240646	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58565118	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58660555	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58859690	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60216010	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66912549	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67618547	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7277520	0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7278539	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7279644	0.90[JPT][hapmap]
rs73226931	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs762416	0.90[JPT][hapmap]
rs8132053	0.90[JPT][hapmap]
rs9306162	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9647250	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9974080	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9974122	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9974624	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9976132	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9978185	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9978333	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9978624	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9982899	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9982908	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9983217	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45285600-45287600	Enhancers	Fetal Brain Male	brain
2	chr21:45285800-45287600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr21:45285800-45287600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr21:45286000-45287600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:45286000-45300400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:45286200-45287600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr21:45286400-45287600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:45286400-45287600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:45286400-45287600	Flanking Active TSS	Colonic Mucosa	Colon
10	chr21:45286400-45287600	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr21:45286400-45287600	Enhancers	Psoas Muscle	Psoas
12	chr21:45286400-45287600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr21:45286400-45287600	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr21:45286400-45288200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:45286400-45288400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr21:45286400-45289000	Flanking Active TSS	Liver	Liver
17	chr21:45286600-45287600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr21:45286600-45287600	Flanking Active TSS	GM12878-XiMat	blood
19	chr21:45286600-45287800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr21:45286600-45292600	Weak transcription	Aorta	Aorta
21	chr21:45286800-45287600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:45286800-45287600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:45286800-45287600	Enhancers	Brain Anterior Caudate	brain
24	chr21:45286800-45287600	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr21:45286800-45287600	Genic enhancers	Fetal Muscle Leg	muscle
26	chr21:45286800-45287600	Genic enhancers	Fetal Thymus	thymus
27	chr21:45286800-45287600	Enhancers	Left Ventricle	heart
28	chr21:45286800-45287600	Genic enhancers	Lung	lung
29	chr21:45286800-45287600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr21:45286800-45287600	Enhancers	Right Ventricle	heart
31	chr21:45286800-45287600	Enhancers	Small Intestine	intestine
32	chr21:45286800-45287600	Enhancers	Spleen	Spleen
33	chr21:45286800-45287600	Enhancers	A549	lung
34	chr21:45286800-45288000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr21:45286800-45288200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:45286800-45288400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:45286800-45288400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr21:45286800-45288400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr21:45286800-45288400	Genic enhancers	Fetal Brain Female	brain
40	chr21:45286800-45288400	Enhancers	Gastric	stomach
41	chr21:45286800-45289600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr21:45286800-45293800	Weak transcription	HSMMtube	muscle
43	chr21:45286800-45299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:45287000-45287600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr21:45287000-45287600	Transcr. at gene 5' and 3'	K562	blood
46	chr21:45287000-45287800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr21:45287000-45287800	Enhancers	Placenta	Placenta
48	chr21:45287000-45288200	Enhancers	Brain Hippocampus Middle	brain
49	chr21:45287000-45288400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr21:45287000-45288400	Enhancers	HMEC	breast

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