Variant report

Variant	rs1974414
Chromosome Location	chr21:28340993-28340994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:28340634..28343175-chr21:28343403..28345485,2	K562	blood:
2	chr21:28339449..28341651-chr21:28350811..28353450,2	K562	blood:
3	chr21:28340845..28341745-chr6:14290194..14291051,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10446077	1.00[ASN][1000 genomes]
rs11909037	1.00[ASN][1000 genomes]
rs11909355	0.98[EUR][1000 genomes]
rs11910955	0.99[EUR][1000 genomes]
rs11911883	0.98[EUR][1000 genomes]
rs1444268	1.00[ASN][1000 genomes]
rs16979728	1.00[ASN][1000 genomes]
rs2830594	0.99[EUR][1000 genomes]
rs2830602	0.97[EUR][1000 genomes]
rs28409680	1.00[ASN][1000 genomes]
rs4101218	1.00[ASN][1000 genomes]
rs66666114	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72635026	0.92[EUR][1000 genomes]
rs72635027	0.99[EUR][1000 genomes]
rs72635028	0.99[EUR][1000 genomes]
rs72635029	0.99[EUR][1000 genomes]
rs72635030	0.99[EUR][1000 genomes]
rs72635031	0.99[EUR][1000 genomes]
rs72635032	0.99[EUR][1000 genomes]
rs72635033	0.99[EUR][1000 genomes]
rs72635034	0.99[EUR][1000 genomes]
rs72635035	0.99[EUR][1000 genomes]
rs72635036	0.99[EUR][1000 genomes]
rs73354230	1.00[ASN][1000 genomes]
rs73354266	1.00[ASN][1000 genomes]
rs73356158	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129090	0.99[EUR][1000 genomes]
rs9305294	1.00[ASN][1000 genomes]
rs9636787	0.92[EUR][1000 genomes]
rs9976701	1.00[ASN][1000 genomes]
rs9977087	1.00[ASN][1000 genomes]
rs9978597	1.00[ASN][1000 genomes]
rs9979835	1.00[ASN][1000 genomes]
rs9980101	1.00[ASN][1000 genomes]
rs9981919	1.00[ASN][1000 genomes]
rs9982289	1.00[ASN][1000 genomes]
rs9983798	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28337600-28341000	Active TSS	Hela-S3	cervix
2	chr21:28340400-28341000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
3	chr21:28340400-28341200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr21:28340400-28349600	Weak transcription	HSMM	muscle
5	chr21:28340600-28341000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr21:28340600-28341000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr21:28340600-28341000	Flanking Active TSS	Ovary	ovary
8	chr21:28340600-28341200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr21:28340600-28341200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr21:28340600-28341600	Enhancers	NHDF-Ad	bronchial
11	chr21:28340600-28342400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:28340600-28345400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:28340800-28341000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr21:28340800-28341000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr21:28340800-28341000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr21:28340800-28341000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr21:28340800-28341000	Bivalent Enhancer	Placenta	Placenta
18	chr21:28340800-28341200	Enhancers	HSMMtube	muscle
19	chr21:28340800-28341400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr21:28340800-28341400	Enhancers	Adipose Nuclei	Adipose
21	chr21:28340800-28342200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:28340800-28342200	Weak transcription	Osteobl	bone
23	chr21:28340800-28345600	Weak transcription	Fetal Kidney	kidney

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