Variant report

Variant	rs73283349
Chromosome Location	chr14:70223165-70223166
allele	C/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:8)

rs_ID	r²[population]
rs1958085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55663855	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58458032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60401303	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61343418	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285211	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74060546	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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70218800-70223400	Enhancers	HepG2	liver
2	chr14:70220800-70223600	Enhancers	Fetal Intestine Large	intestine
3	chr14:70221000-70223600	Enhancers	Fetal Intestine Small	intestine
4	chr14:70221000-70227200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr14:70221200-70223400	Enhancers	K562	blood
6	chr14:70222000-70223200	Enhancers	Primary T cells from cord blood	blood
7	chr14:70222000-70223200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:70222000-70223200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr14:70222000-70223200	Enhancers	Stomach Mucosa	stomach
10	chr14:70222000-70223400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:70222000-70223400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:70222000-70223400	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:70222000-70223400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:70222200-70223200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:70222400-70233000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:70222600-70227400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:70223000-70223200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:70223000-70223400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:70223000-70228800	Weak transcription	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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