Variant report

Variant	rs843740
Chromosome Location	chr2:54499344-54499345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10184099	0.81[ASN][1000 genomes]
rs1682108	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1682111	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17045765	0.81[ASN][1000 genomes]
rs1727504	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs62140507	0.81[ASN][1000 genomes]
rs698752	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs843648	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs843666	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs843671	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs843672	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs843689	0.82[YRI][hapmap]
rs843699	0.85[YRI][hapmap]
rs843754	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs843764	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs843765	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs863622	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv457897	chr2:54459093-54502912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv582012	chr2:54459093-54502912	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998172	chr2:54488511-54537474	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1011754	chr2:54494644-54533805	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54481000-54502600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:54483400-54521200	Weak transcription	Pancreas	Pancrea
4	chr2:54488200-54514600	Weak transcription	Aorta	Aorta
5	chr2:54489400-54501400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:54491000-54501200	Weak transcription	HSMM	muscle
7	chr2:54495000-54500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:54495200-54503400	Weak transcription	Psoas Muscle	Psoas
9	chr2:54495400-54501400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:54496000-54501600	Weak transcription	Left Ventricle	heart
11	chr2:54498200-54500800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:54498400-54500200	Enhancers	Primary B cells from cord blood	blood
13	chr2:54498400-54500200	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:54498400-54502400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:54498600-54500200	Enhancers	Dnd41	blood
16	chr2:54498800-54499600	Enhancers	HepG2	liver
17	chr2:54499200-54499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:54499200-54499800	Enhancers	GM12878-XiMat	blood
19	chr2:54499200-54504000	Weak transcription	Placenta Amnion	Placenta Amnion

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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