Variant report

Variant	rs6682693
Chromosome Location	chr1:246984574-246984575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12740434	0.83[AFR][1000 genomes]
rs3007300	0.88[AFR][1000 genomes]
rs6700207	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246981400-246989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:246983000-246986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:246983600-246985200	Enhancers	Primary T cells from cord blood	blood
4	chr1:246983600-246986000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:246983800-246985600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:246984000-246984600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:246984000-246984800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:246984000-246984800	Enhancers	Fetal Thymus	thymus
9	chr1:246984000-246985000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:246984000-246985000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:246984000-246985200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:246984000-246985200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:246984000-246985200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:246984000-246985200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:246984200-246984800	Enhancers	Thymus	Thymus
16	chr1:246984200-246985600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:246984200-246986600	Enhancers	Dnd41	blood
18	chr1:246984400-246985200	Enhancers	Primary T helper memory cells from peripheral blood 2	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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