Variant report

Variant	rs28514310
Chromosome Location	chr2:234837877-234837878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11563219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28901604	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs28901605	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs28901611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28902476	0.81[YRI][hapmap]
rs6721957	0.80[YRI][hapmap]
rs7564831	0.91[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:234834400-234838000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234836200-234838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:234836200-234838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:234837000-234838400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:234837000-234838600	Enhancers	A549	lung
6	chr2:234837200-234838000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:234837400-234839000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:234837600-234838600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:234837600-234838800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:234837600-234838800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:234837600-234839000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:234837600-234839000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:234837800-234838000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:234837800-234838200	Enhancers	HSMMtube	muscle
15	chr2:234837800-234838400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:234837800-234838800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:234837800-234839000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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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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