Variant report

Variant	rs7279430
Chromosome Location	chr21:40206838-40206839
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40175881..40179455-chr21:40201702..40207885,11	MCF-7	breast:
2	chr21:40204941..40207294-chr21:40276421..40279215,2	K562	blood:
3	chr21:40205616..40208986-chr21:40210258..40212560,3	MCF-7	breast:
4	chr21:40206775..40209110-chr21:40210646..40213517,2	K562	blood:
5	chr21:40202141..40208683-chr21:40214749..40222143,9	K562	blood:
6	chr21:40204834..40207310-chr21:40220918..40222421,2	K562	blood:
7	chr21:40195899..40197940-chr21:40205246..40206872,2	MCF-7	breast:
8	chr21:40205540..40207213-chr21:40208590..40210222,2	K562	blood:
9	chr21:40175199..40185296-chr21:40201950..40208355,14	K562	blood:
10	chr21:40203844..40205524-chr21:40205560..40208541,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229986	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1009123	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1051425	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1534827	1.00[JPT][hapmap]
rs2015748	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2836700	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs455426	0.81[CEU][hapmap]
rs463032	0.82[CEU][hapmap]
rs464366	0.86[JPT][hapmap]
rs464476	0.86[JPT][hapmap]
rs465657	0.82[CHB][hapmap]
rs468057	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs530	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs711	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7281698	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs877370	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909103	0.83[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
2	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
3	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
4	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
5	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
6	chr21:40202600-40207600	Enhancers	HepG2	liver
7	chr21:40203200-40210600	Weak transcription	Spleen	Spleen
8	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
9	chr21:40204200-40209600	Weak transcription	Dnd41	blood
10	chr21:40204200-40210200	Weak transcription	NHLF	lung
11	chr21:40204600-40210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:40204600-40210000	Weak transcription	HMEC	breast
13	chr21:40204800-40209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:40204800-40210000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:40204800-40210000	Weak transcription	NHEK	skin
16	chr21:40205000-40209600	Weak transcription	K562	blood
17	chr21:40205000-40210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:40205200-40210000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr21:40205400-40209600	Weak transcription	Hela-S3	cervix
20	chr21:40205400-40211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:40205600-40210400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:40206800-40207000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:40206800-40207000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:40206800-40207200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:40206800-40207400	Enhancers	Fetal Stomach	stomach

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