Variant report

Variant	rs7275976
Chromosome Location	chr21:44547487-44547488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56226926	1.00[AMR][1000 genomes]
rs56321834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59845568	1.00[AMR][1000 genomes]
rs60609633	1.00[AMR][1000 genomes]
rs61618446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280646	1.00[MEX][hapmap]
rs73367660	1.00[AMR][1000 genomes]
rs73370250	1.00[AMR][1000 genomes]
rs73370279	1.00[AMR][1000 genomes]
rs73370286	1.00[AMR][1000 genomes]
rs73370299	1.00[AMR][1000 genomes]
rs73906448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906474	1.00[AMR][1000 genomes]
rs73906478	1.00[AMR][1000 genomes]
rs73909403	1.00[AMR][1000 genomes]
rs73909408	1.00[AMR][1000 genomes]
rs8131022	1.00[AMR][1000 genomes]
rs8134371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv949119	chr21:44360107-44559195	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv459279	chr21:44508020-44569153	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv587663	chr21:44508020-44569153	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44528600-44550200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44528600-44561600	Weak transcription	Right Ventricle	heart
3	chr21:44529000-44559000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:44529600-44554800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:44529800-44549800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:44531000-44549600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:44531200-44557200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:44531200-44562000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:44531400-44548000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:44531600-44550600	Weak transcription	Fetal Thymus	thymus
11	chr21:44532600-44548000	Weak transcription	GM12878-XiMat	blood
12	chr21:44536400-44549800	Weak transcription	Pancreas	Pancrea
13	chr21:44545600-44558800	Weak transcription	Fetal Intestine Large	intestine
14	chr21:44545800-44547800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:44547000-44547600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:44547200-44547600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr21:44547200-44547600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links