Variant report

Variant	rs389278
Chromosome Location	chr21:44926536-44926537
allele	A/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	chr21:44922907..44925146-chr21:44925882..44927883,3	K562	blood:
2	chr21:44925704..44927836-chr21:44928810..44931005,2	K562	blood:
3	chr21:44920414..44926751-chr21:45027970..45034874,9	MCF-7	breast:
4	chr21:44839515..44855046-chr21:44918803..44938582,70	MCF-7	breast:
5	chr21:44924498..44927329-chr21:45064955..45067005,2	MCF-7	breast:
6	chr21:44903235..44910338-chr21:44918042..44927375,22	MCF-7	breast:
7	chr21:44393789..44396159-chr21:44925953..44928045,2	MCF-7	breast:
8	chr21:44924283..44926867-chr21:45004236..45006835,2	MCF-7	breast:
9	chr21:44846010..44848472-chr21:44925465..44927292,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000160199	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1003280	0.86[CHB][hapmap]
rs1073522	0.86[CHB][hapmap]
rs1122873	0.86[CHB][hapmap]
rs11700909	0.93[JPT][hapmap]
rs11909064	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs12627667	0.86[CHB][hapmap]
rs1378079	0.86[CHB][hapmap]
rs1378080	0.86[CHB][hapmap]
rs141521	0.86[CHB][hapmap]
rs1454648	0.86[CHB][hapmap]
rs1454650	0.86[CHB][hapmap]
rs1454651	0.86[CHB][hapmap]
rs1584917	0.85[CHB][hapmap]
rs1584918	0.85[CHB][hapmap]
rs1598206	0.86[CHB][hapmap]
rs162344	0.86[CHB][hapmap]
rs162345	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162366	0.86[CHB][hapmap]
rs162371	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162372	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162375	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162376	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162377	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162378	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162388	0.86[CHB][hapmap]
rs2070533	0.93[JPT][hapmap]
rs2155722	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2236666	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs2246602	0.86[CHB][hapmap]
rs2250773	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs2251253	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs229341	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs229357	0.86[CHB][hapmap]
rs2298561	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs2329442	0.86[CHB][hapmap]
rs2329593	0.93[JPT][hapmap]
rs2838316	0.86[CHB][hapmap]
rs2838317	0.86[CHB][hapmap]
rs2838319	0.86[CHB][hapmap]
rs2838320	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2838321	0.86[CHB][hapmap]
rs2838323	0.86[CHB][hapmap]
rs2838324	0.86[CHB][hapmap]
rs2838328	0.86[CHB][hapmap]
rs2838330	0.86[CHB][hapmap]
rs2838331	0.86[CHB][hapmap]
rs2838336	0.86[CHB][hapmap]
rs2838337	0.86[CHB][hapmap]
rs2838338	0.86[CHB][hapmap]
rs2838339	0.86[CHB][hapmap]
rs2838341	0.86[CHB][hapmap]
rs2838343	0.86[CHB][hapmap]
rs2838344	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2838348	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2838350	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs2838351	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2838353	0.93[JPT][hapmap]
rs2838354	0.93[JPT][hapmap]
rs3788062	0.86[CHB][hapmap]
rs3819161	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs4818850	0.85[CHB][hapmap]
rs4818858	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs4818859	0.93[JPT][hapmap]
rs4818860	0.93[JPT][hapmap]
rs4819270	0.85[CHB][hapmap]
rs4819285	0.93[JPT][hapmap]
rs4819288	0.93[JPT][hapmap]
rs4819289	0.93[JPT][hapmap]
rs4819291	0.92[JPT][hapmap]
rs6518301	0.86[CHB][hapmap]
rs6518302	0.86[CHB][hapmap]
rs6518309	0.86[CHB][hapmap]
rs6518310	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs7276215	0.85[CHB][hapmap]
rs7276633	0.86[CHB][hapmap]
rs7279958	0.86[CHB][hapmap]
rs7279959	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7279968	0.86[CHB][hapmap]
rs7282122	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs762400	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs8129601	0.93[JPT][hapmap]
rs8133523	0.86[CHB][hapmap]
rs86139	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9306159	0.86[CHB][hapmap]
rs9306160	0.80[JPT][hapmap]
rs9976441	0.86[CHB][hapmap]
rs9978811	0.85[CHB][hapmap]
rs9981291	0.86[CHB][hapmap]
rs9981790	0.91[CHB][hapmap]
rs9983763	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
9	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
10	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
15	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
16	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
17	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
18	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
19	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44918800-44930200	Weak transcription	Fetal Kidney	kidney
2	chr21:44919800-44936800	Weak transcription	Fetal Brain Female	brain
3	chr21:44922800-44926800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:44922800-44936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:44923400-44926600	Weak transcription	Psoas Muscle	Psoas
6	chr21:44923400-44929000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:44923400-44934000	Weak transcription	Gastric	stomach
8	chr21:44923400-44936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:44923400-44936600	Weak transcription	Brain Germinal Matrix	brain
10	chr21:44924000-44926600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:44924000-44926600	Weak transcription	Fetal Intestine Large	intestine
12	chr21:44924000-44926600	Weak transcription	Fetal Intestine Small	intestine
13	chr21:44924000-44927200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:44924000-44927600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:44924000-44930200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:44924200-44929800	Weak transcription	HMEC	breast
17	chr21:44924400-44926600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:44924400-44927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:44924400-44929200	Weak transcription	A549	lung
20	chr21:44925400-44930000	Weak transcription	Right Atrium	heart
21	chr21:44925600-44928200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr21:44925800-44926800	Enhancers	HSMM	muscle
23	chr21:44925800-44927600	Enhancers	HSMMtube	muscle
24	chr21:44926000-44926800	Enhancers	Right Ventricle	heart
25	chr21:44926000-44927400	Enhancers	Fetal Stomach	stomach
26	chr21:44926000-44927800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr21:44926000-44928000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr21:44926000-44928600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:44926200-44926800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr21:44926200-44927000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:44926200-44927000	Enhancers	Placenta	Placenta
32	chr21:44926200-44927000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr21:44926200-44927000	Enhancers	HepG2	liver
34	chr21:44926200-44927200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:44926200-44928000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:44926200-44928400	Enhancers	Ovary	ovary
37	chr21:44926200-44929400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr21:44926400-44926600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:44926400-44926600	Enhancers	Fetal Lung	lung
40	chr21:44926400-44926800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:44926400-44927000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:44926400-44927000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:44926400-44927000	Enhancers	Esophagus	oesophagus
44	chr21:44926400-44927200	Enhancers	Pancreas	Pancrea
45	chr21:44926400-44928000	Enhancers	NHEK	skin
46	chr21:44926400-44930000	Weak transcription	Left Ventricle	heart

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