Variant report

Variant	rs4997353
Chromosome Location	chr21:45002329-45002330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45000029..45003162-chr21:45004279..45008488,5	MCF-7	breast:
2	chr21:44936672..44939278-chr21:45002074..45004794,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1003280	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1073522	0.93[ASN][1000 genomes]
rs1122873	0.87[ASN][1000 genomes]
rs11701518	0.90[AFR][1000 genomes]
rs11701673	0.94[EUR][1000 genomes]
rs11701746	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12626757	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12627667	0.81[EUR][1000 genomes]
rs1378079	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1378080	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs141521	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436291	0.85[EUR][1000 genomes]
rs1454650	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1454651	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1584917	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1584918	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1595167	0.85[EUR][1000 genomes]
rs1598206	0.91[EUR][1000 genomes]
rs162343	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs162344	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs162345	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs162366	0.87[ASN][1000 genomes]
rs162367	0.83[ASN][1000 genomes]
rs162368	0.87[ASN][1000 genomes]
rs162369	0.88[ASN][1000 genomes]
rs162371	0.86[ASN][1000 genomes]
rs162372	0.88[ASN][1000 genomes]
rs162373	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162374	0.86[ASN][1000 genomes]
rs162375	0.86[ASN][1000 genomes]
rs162376	0.86[ASN][1000 genomes]
rs162377	0.86[ASN][1000 genomes]
rs162378	0.85[ASN][1000 genomes]
rs162380	0.82[ASN][1000 genomes]
rs162381	0.82[ASN][1000 genomes]
rs162388	0.84[ASN][1000 genomes]
rs162389	0.87[ASN][1000 genomes]
rs162390	0.81[ASN][1000 genomes]
rs162391	0.85[ASN][1000 genomes]
rs162393	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162394	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs162395	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162396	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162398	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162399	0.87[ASN][1000 genomes]
rs162400	0.87[ASN][1000 genomes]
rs162401	0.83[EUR][1000 genomes]
rs162402	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162403	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162404	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs167930	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1836854	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1836855	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1836856	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs189094	0.88[ASN][1000 genomes]
rs229357	0.94[ASN][1000 genomes]
rs230640	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230642	0.83[ASN][1000 genomes]
rs230643	0.83[ASN][1000 genomes]
rs230644	0.86[EUR][1000 genomes]
rs230645	0.84[EUR][1000 genomes]
rs230646	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230647	0.83[ASN][1000 genomes]
rs2329442	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838316	0.94[ASN][1000 genomes]
rs2838317	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838318	0.86[EUR][1000 genomes]
rs2838319	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838320	0.87[EUR][1000 genomes]
rs2838321	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838322	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838323	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838324	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838325	0.93[EUR][1000 genomes]
rs2838326	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838328	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838329	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838330	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838331	0.93[ASN][1000 genomes]
rs2838336	0.81[EUR][1000 genomes]
rs2838341	0.80[EUR][1000 genomes]
rs2876854	0.80[AFR][1000 genomes]
rs28840140	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3788062	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463738	0.83[ASN][1000 genomes]
rs4818833	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818843	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818850	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818855	0.81[EUR][1000 genomes]
rs4818856	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819212	0.81[EUR][1000 genomes]
rs4819264	0.91[ASN][1000 genomes]
rs4819270	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56369437	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6518268	0.85[EUR][1000 genomes]
rs6518301	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6518302	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518309	0.87[ASN][1000 genomes]
rs7276215	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7276316	0.86[ASN][1000 genomes]
rs7279958	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7282704	0.85[EUR][1000 genomes]
rs7282933	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7283362	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8131005	0.88[EUR][1000 genomes]
rs8131020	0.84[AFR][1000 genomes]
rs86138	0.88[ASN][1000 genomes]
rs86139	0.88[ASN][1000 genomes]
rs91424	0.82[ASN][1000 genomes]
rs9976441	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9976443	0.83[EUR][1000 genomes]
rs9978811	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981291	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9981790	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9983763	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
11	esv1830550	chr21:44999967-45003980	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3362059	chr21:45000874-45004272	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1818908	chr21:45001457-45004180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1827281	chr21:45001457-45004180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv20719	chr21:45001567-45004171	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1800659	chr21:45001805-45004180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1851149	chr21:45001805-45004180	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:44992400-45004200	Weak transcription	Right Atrium	heart
4	chr21:44995000-45005400	Weak transcription	Ovary	ovary
5	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
6	chr21:44995200-45006000	Weak transcription	Spleen	Spleen
7	chr21:44996200-45005800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:44998200-45002400	Enhancers	Fetal Stomach	stomach
9	chr21:44998600-45006000	Weak transcription	Gastric	stomach
10	chr21:44999200-45005800	Weak transcription	Stomach Mucosa	stomach
11	chr21:44999600-45005000	Weak transcription	HSMM	muscle
12	chr21:44999600-45005800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:45000000-45004600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:45000000-45005000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:45000000-45005200	Weak transcription	HSMMtube	muscle
16	chr21:45000400-45005200	Weak transcription	Pancreas	Pancrea
17	chr21:45000800-45003600	Weak transcription	Right Ventricle	heart
18	chr21:45001400-45002400	Enhancers	Fetal Muscle Leg	muscle
19	chr21:45001600-45002400	Enhancers	Lung	lung
20	chr21:45001800-45002400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:45001800-45005400	Weak transcription	Fetal Lung	lung
22	chr21:45001800-45005800	Weak transcription	Fetal Thymus	thymus
23	chr21:45002000-45002400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:45002000-45005200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:45002000-45005200	Weak transcription	Placenta	Placenta
26	chr21:45002200-45005400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links