Variant report

Variant	rs2835350
Chromosome Location	chr21:37814159-37814160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1994460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55671293	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60419768	1.00[EUR][1000 genomes]
rs60482546	0.89[EUR][1000 genomes]
rs60581192	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73902514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73902521	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73902525	1.00[EUR][1000 genomes];0.87[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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37803800-37814200	Weak transcription	Gastric	stomach
2	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
5	chr21:37810400-37818800	Weak transcription	Pancreas	Pancrea
6	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:37810600-37818200	Weak transcription	NH-A	brain
8	chr21:37810600-37829200	Weak transcription	HSMM	muscle
9	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:37810800-37814600	Weak transcription	Osteobl	bone
11	chr21:37810800-37824600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:37810800-37826400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr21:37810800-37827000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr21:37811000-37815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:37812000-37818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:37812200-37814200	Weak transcription	HUVEC	blood vessel
19	chr21:37814000-37814200	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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