Variant report

Variant	rs17022239
Chromosome Location	chr3:85047890-85047891
allele	C/G
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]
rs1248853	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1248855	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1248856	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1248863	0.94[EUR][1000 genomes]
rs17479424	1.00[EUR][1000 genomes]
rs41413246	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs424029	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7647140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	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
4	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
5	nsv1000793	chr3:85020452-85051839	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 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	chr3:85034200-85048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:85035600-85052800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:85041200-85054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:85047200-85048400	Enhancers	Brain Angular Gyrus	brain
5	chr3:85047200-85048800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:85047200-85048800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:85047200-85049000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:85047400-85048000	Enhancers	Brain Hippocampus Middle	brain
9	chr3:85047400-85048400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:85047400-85048800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:85047400-85049000	Enhancers	Fetal Lung	lung
12	chr3:85047600-85048000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:85047600-85048200	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:85047600-85048600	Enhancers	Brain Anterior Caudate	brain
15	chr3:85047600-85048800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:85047600-85048800	Enhancers	Liver	Liver
17	chr3:85047800-85048000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:85047800-85051400	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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