Variant report

Variant	rs1899617
Chromosome Location	chr1:239748949-239748950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1218659	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992547	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4659546	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9725018	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer 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	4 gene(s)	inside rSNPs	diseases
4	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239728800-239769400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:239743800-239750400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:239744000-239761400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:239746400-239750000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:239746400-239756200	Weak transcription	Gastric	stomach
6	chr1:239746600-239757600	Weak transcription	Pancreas	Pancrea
7	chr1:239747000-239754600	Weak transcription	Fetal Kidney	kidney
8	chr1:239747400-239750800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:239747400-239753400	Weak transcription	Ovary	ovary
10	chr1:239748600-239751000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:239748600-239751000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:239748800-239749000	Enhancers	Primary T cells from cord blood	blood
13	chr1:239748800-239749000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:239748800-239749400	Enhancers	Duodenum Smooth Muscle	Duodenum

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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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