Variant report

Variant	rs17046793
Chromosome Location	chr2:55505433-55505434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10496041	1.00[CEU][hapmap]
rs11892007	1.00[CEU][hapmap]
rs12104902	1.00[CEU][hapmap]
rs12105731	1.00[CEU][hapmap]
rs1437387	1.00[CEU][hapmap]
rs1437388	1.00[CEU][hapmap]
rs17046834	1.00[CEU][hapmap]
rs57055480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57105158	0.82[EUR][1000 genomes]
rs58533450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58560357	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59554860	0.82[EUR][1000 genomes]
rs60941520	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6714576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726732	1.00[CEU][hapmap]
rs6727964	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6733567	1.00[CEU][hapmap]
rs749221	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9784090	1.00[CEU][hapmap]

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	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 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	chr2:55496600-55508800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:55497000-55508800	Weak transcription	Right Atrium	heart
3	chr2:55497200-55506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:55497200-55506200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:55497400-55508800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:55497600-55508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:55501000-55517000	Weak transcription	Hela-S3	cervix
8	chr2:55503600-55505600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:55504600-55506200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:55504800-55505800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:55504800-55506200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:55504800-55508800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:55505000-55506200	Weak transcription	HepG2	liver
14	chr2:55505400-55506000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:55505400-55506200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:55505400-55508800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:55505400-55508800	Weak transcription	Monocytes-CD14+_RO01746	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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