Variant report

Variant	rs4818843
Chromosome Location	chr21:45006607-45006608
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45006194..45009142-chr21:45021772..45023850,3	MCF-7	breast:
2	chr21:44931738..44933957-chr21:45005070..45008681,4	MCF-7	breast:
3	chr21:45005604..45007811-chr21:45030159..45032407,3	MCF-7	breast:
4	chr21:44932097..44937071-chr21:45004878..45007611,5	MCF-7	breast:
5	chr21:44990852..44992560-chr21:45004993..45006854,2	K562	blood:
6	chr21:44940715..44942547-chr21:45006167..45008707,3	MCF-7	breast:
7	chr21:45006048..45008566-chr21:45024329..45026628,2	MCF-7	breast:
8	chr21:45000029..45003162-chr21:45004279..45008488,5	MCF-7	breast:
9	chr21:45005141..45010452-chr21:45028185..45033118,8	MCF-7	breast:
10	chr21:44924283..44926867-chr21:45004236..45006835,2	MCF-7	breast:
11	chr21:44929409..44930980-chr21:45004462..45007751,3	MCF-7	breast:
12	chr21:45005708..45007354-chr21:45034728..45036939,2	MCF-7	breast:

No data

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1003280	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073522	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122873	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11701673	0.85[EUR][1000 genomes]
rs12626757	0.98[ASN][1000 genomes]
rs12627667	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1378079	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378080	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs141521	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1436291	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1454648	0.83[ASN][1000 genomes]
rs1454650	0.98[ASN][1000 genomes]
rs1454651	0.98[ASN][1000 genomes]
rs1584917	0.93[ASN][1000 genomes]
rs1584918	0.93[ASN][1000 genomes]
rs1595167	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1598206	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162343	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162344	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162345	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162366	0.93[ASN][1000 genomes]
rs162367	0.89[ASN][1000 genomes]
rs162368	0.93[ASN][1000 genomes]
rs162369	0.94[ASN][1000 genomes]
rs162371	0.92[ASN][1000 genomes]
rs162372	0.94[ASN][1000 genomes]
rs162373	0.90[ASN][1000 genomes]
rs162374	0.92[ASN][1000 genomes]
rs162375	0.92[ASN][1000 genomes]
rs162376	0.92[ASN][1000 genomes]
rs162377	0.92[ASN][1000 genomes]
rs162378	0.91[ASN][1000 genomes]
rs162380	0.88[ASN][1000 genomes]
rs162381	0.88[ASN][1000 genomes]
rs162388	0.90[ASN][1000 genomes]
rs162389	0.93[ASN][1000 genomes]
rs162390	0.87[ASN][1000 genomes]
rs162391	0.91[ASN][1000 genomes]
rs162393	0.93[ASN][1000 genomes]
rs162394	0.96[ASN][1000 genomes]
rs162395	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162396	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162398	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162399	0.93[ASN][1000 genomes]
rs162400	0.93[ASN][1000 genomes]
rs162402	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162403	0.97[ASN][1000 genomes]
rs162404	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs167930	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189094	0.94[ASN][1000 genomes]
rs2051407	0.80[ASN][1000 genomes]
rs2246602	0.83[ASN][1000 genomes]
rs229340	0.81[ASN][1000 genomes]
rs229357	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230640	0.89[ASN][1000 genomes]
rs230642	0.89[ASN][1000 genomes]
rs230643	0.89[ASN][1000 genomes]
rs230644	0.82[ASN][1000 genomes]
rs230646	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs230647	0.89[ASN][1000 genomes]
rs2329442	0.93[ASN][1000 genomes]
rs2329443	0.82[ASN][1000 genomes]
rs2838316	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838317	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838318	0.93[EUR][1000 genomes]
rs2838319	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838321	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838322	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838323	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838324	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838325	0.84[EUR][1000 genomes]
rs2838326	0.85[EUR][1000 genomes]
rs2838328	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838329	0.99[ASN][1000 genomes]
rs2838330	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838331	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838336	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838337	0.81[ASN][1000 genomes]
rs2838339	0.80[ASN][1000 genomes]
rs2838340	0.81[EUR][1000 genomes]
rs2838341	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838342	0.83[EUR][1000 genomes]
rs2838343	0.83[EUR][1000 genomes]
rs28840140	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35110281	0.80[ASN][1000 genomes]
rs3788062	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463738	0.89[ASN][1000 genomes]
rs4818833	0.94[ASN][1000 genomes]
rs4818850	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818855	0.88[EUR][1000 genomes]
rs4818856	0.93[ASN][1000 genomes]
rs4819212	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4819264	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819270	0.99[ASN][1000 genomes]
rs4997353	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58451308	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6518268	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6518301	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6518302	0.99[ASN][1000 genomes]
rs6518309	0.93[ASN][1000 genomes]
rs7275705	0.83[ASN][1000 genomes]
rs7276215	0.98[ASN][1000 genomes]
rs7276316	0.92[ASN][1000 genomes]
rs7276633	0.82[EUR][1000 genomes]
rs7277539	0.83[ASN][1000 genomes]
rs7279958	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279968	0.83[EUR][1000 genomes]
rs7282704	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7282933	0.93[ASN][1000 genomes]
rs86138	0.94[ASN][1000 genomes]
rs86139	0.94[ASN][1000 genomes]
rs91424	0.88[ASN][1000 genomes]
rs9306159	0.83[ASN][1000 genomes]
rs9974710	0.82[ASN][1000 genomes]
rs9976441	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9976443	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9978811	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980185	0.83[ASN][1000 genomes]
rs9981291	0.99[ASN][1000 genomes]
rs9981790	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9983763	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9984002	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45004600-45007200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:45004600-45014200	Enhancers	HepG2	liver
4	chr21:45005000-45007400	Enhancers	HUVEC	blood vessel
5	chr21:45005000-45007800	Enhancers	NHEK	skin
6	chr21:45005000-45008000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:45005000-45008000	Enhancers	HSMM	muscle
8	chr21:45005000-45011800	Enhancers	HMEC	breast
9	chr21:45005200-45007200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:45005200-45008000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:45005200-45008200	Enhancers	HSMMtube	muscle
12	chr21:45005400-45006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:45005400-45006800	Enhancers	Fetal Lung	lung
14	chr21:45005400-45006800	Enhancers	Osteobl	bone
15	chr21:45005400-45007200	Enhancers	NH-A	brain
16	chr21:45005400-45008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr21:45005400-45011800	Enhancers	Fetal Intestine Small	intestine
18	chr21:45005600-45006800	Enhancers	Colon Smooth Muscle	Colon
19	chr21:45005600-45010400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:45005800-45006800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:45005800-45006800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:45005800-45006800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr21:45005800-45007000	Enhancers	NHLF	lung
24	chr21:45005800-45007200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr21:45005800-45007200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:45006000-45008600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:45006000-45008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:45006000-45010400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr21:45006000-45010400	Enhancers	Fetal Intestine Large	intestine
30	chr21:45006000-45011200	Weak transcription	Psoas Muscle	Psoas
31	chr21:45006000-45012600	Weak transcription	Ovary	ovary
32	chr21:45006200-45006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:45006200-45006800	Enhancers	Adipose Nuclei	Adipose
34	chr21:45006200-45008800	Weak transcription	Placenta	Placenta
35	chr21:45006200-45008800	Weak transcription	Pancreas	Pancrea
36	chr21:45006200-45011600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:45006200-45012000	Weak transcription	Fetal Muscle Leg	muscle
38	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
39	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr21:45006400-45008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:45006400-45008600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:45006400-45013400	Enhancers	Hela-S3	cervix
43	chr21:45006600-45006800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:45006600-45006800	Enhancers	Small Intestine	intestine
45	chr21:45006600-45007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr21:45006600-45007200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:45006600-45008600	Weak transcription	Stomach Mucosa	stomach
48	chr21:45006600-45008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:45006600-45010200	Weak transcription	NHDF-Ad	bronchial
50	chr21:45006600-45015200	Enhancers	A549	lung

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