Variant report

Variant	rs73112626
Chromosome Location	chr1:221941840-221941841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73110894	1.00[AFR][1000 genomes]
rs73112655	1.00[AFR][1000 genomes]
rs73112668	1.00[AFR][1000 genomes]
rs73112688	1.00[AFR][1000 genomes]
rs73114716	1.00[AFR][1000 genomes]
rs73116752	1.00[AFR][1000 genomes]
rs73116759	1.00[AFR][1000 genomes]
rs73116767	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:221935600-221944000	Weak transcription	Pancreas	Pancrea
3	chr1:221939400-221945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:221939800-221942000	Weak transcription	HUVEC	blood vessel
5	chr1:221939800-221944000	Weak transcription	Hela-S3	cervix
6	chr1:221939800-221945200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:221940000-221942000	Weak transcription	HMEC	breast
8	chr1:221940200-221942200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:221940200-221942800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:221941600-221942200	Enhancers	Dnd41	blood
11	chr1:221941600-221942600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:221941600-221942800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:221941600-221943000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:221941600-221943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:221941800-221942200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:221941800-221942200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:221941800-221942400	Enhancers	Primary T cells from cord blood	blood
18	chr1:221941800-221943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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