Variant report

Variant	rs1248856
Chromosome Location	chr3:85019755-85019756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1248853	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1248855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1248863	0.94[EUR][1000 genomes]
rs17022239	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17479424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41413246	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs424029	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs7647140	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381298	chr3:84689266-85030314	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1002058	chr3:84757044-85389876	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1001316	chr3:84773522-85071342	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv877091	chr3:84876250-85069287	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv482371	chr3:84880813-85031486	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv471620	chr3:84880814-85031486	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1829788	chr3:84926769-85086403	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1010140	chr3:84997012-85034281	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3365261	chr3:85016662-85021560	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85014400-85020000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:85017600-85019800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:85017600-85020000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:85017600-85020200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:85017600-85021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:85017800-85019800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:85018000-85021000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:85018000-85027600	Weak transcription	Brain Substantia Nigra	brain
9	chr3:85018200-85022600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:85018200-85029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:85018400-85025800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:85018400-85027800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:85018400-85028000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:85018400-85029200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:85019000-85028000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:85019200-85020200	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:85019200-85026200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:85019600-85029200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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

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