Variant report

Variant	rs2242948
Chromosome Location	chr21:40492274-40492275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40316631..40319146-chr21:40490602..40492278,2	MCF-7	breast:
2	chr21:40480287..40482498-chr21:40490463..40492785,2	MCF-7	breast:
3	chr21:40486081..40488912-chr21:40489931..40493675,3	K562	blood:
4	chr21:40422600..40424974-chr21:40491663..40494266,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11702158	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836822	1.00[LWK][hapmap]
rs2836823	1.00[LWK][hapmap]
rs2836894	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2836896	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836897	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836898	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836899	0.83[ASN][1000 genomes]
rs2836900	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836903	0.83[ASN][1000 genomes]
rs34912726	0.83[ASN][1000 genomes]
rs34989336	0.82[ASN][1000 genomes]
rs4817990	0.88[ASN][1000 genomes]
rs62224879	0.81[ASN][1000 genomes]
rs7510385	0.83[ASN][1000 genomes]
rs8131292	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8131570	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40478600-40497000	Weak transcription	Right Atrium	heart
2	chr21:40486600-40497800	Weak transcription	Thymus	Thymus
3	chr21:40487200-40496400	Weak transcription	Aorta	Aorta
4	chr21:40487200-40497600	Weak transcription	Colonic Mucosa	Colon
5	chr21:40487600-40492600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr21:40487600-40493000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:40487800-40492800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:40487800-40493000	Weak transcription	Psoas Muscle	Psoas
9	chr21:40487800-40497600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:40488000-40493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:40488200-40493400	Weak transcription	Lung	lung
12	chr21:40490800-40493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:40490800-40493400	Weak transcription	Spleen	Spleen
14	chr21:40491600-40494400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr21:40491800-40492400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:40491800-40492600	Weak transcription	Right Ventricle	heart
17	chr21:40491800-40493000	Enhancers	Placenta	Placenta
18	chr21:40491800-40493600	Enhancers	Dnd41	blood
19	chr21:40492200-40492400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:40492200-40493200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:40492200-40493600	Weak transcription	Esophagus	oesophagus
22	chr21:40492200-40493600	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links