Variant report

Variant	rs10802764
Chromosome Location	chr1:239581417-239581418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10925884	0.85[ASN][1000 genomes]
rs10925885	0.82[ASN][1000 genomes]
rs12120971	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12727239	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557960	0.83[ASN][1000 genomes]
rs4659545	0.80[ASN][1000 genomes]
rs61182975	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6429137	0.81[ASN][1000 genomes]
rs6429138	0.83[ASN][1000 genomes]
rs6671410	0.80[ASN][1000 genomes]
rs6696246	0.80[ASN][1000 genomes]
rs6699243	0.80[ASN][1000 genomes]
rs7536688	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1006640	chr1:239290853-239658788	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535358	chr1:239290853-239658788	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873349	chr1:239475925-239587512	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3373454	chr1:239495349-239670615	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873350	chr1:239498915-239648140	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv833037	chr1:239522168-239699412	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:239576600-239585000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:239576800-239583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:239576800-239586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:239578600-239581600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:239580200-239582200	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:239580200-239582400	Enhancers	Colon Smooth Muscle	Colon
7	chr1:239581200-239581600	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:239581200-239582400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr1:239581200-239582400	Enhancers	Fetal Stomach	stomach
10	chr1:239581200-239582600	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:239581400-239581600	Enhancers	Fetal Brain Male	brain
12	chr1:239581400-239581600	Enhancers	Fetal Muscle Leg	muscle
13	chr1:239581400-239581600	Enhancers	Ovary	ovary
14	chr1:239581400-239581800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:239581400-239581800	Enhancers	Fetal Brain Female	brain
16	chr1:239581400-239582200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:239581400-239582200	Enhancers	Gastric	stomach

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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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