Variant report

Variant	rs1694977
Chromosome Location	chr3:85036752-85036753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:85029590..85031359-chr3:85035312..85037118,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1016305	0.81[CHB][hapmap]
rs1248858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1248859	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1248860	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1248861	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13081745	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872553	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs1872556	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2035561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035562	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326123	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4301023	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs4499618	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4569672	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4856559	0.81[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs653481	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6549009	0.85[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7651996	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs765461	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9831123	0.95[CHB][hapmap]

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	chr3:85032000-85037800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:85034200-85040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:85034200-85042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:85034200-85048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:85035000-85037000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:85035200-85041000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:85035600-85036800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:85035600-85052800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:85036200-85036800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:85036200-85037400	Enhancers	Fetal Muscle Leg	muscle
11	chr3:85036200-85037600	Enhancers	Brain Anterior Caudate	brain
12	chr3:85036200-85037800	Enhancers	Brain Angular Gyrus	brain
13	chr3:85036200-85037800	Enhancers	Fetal Lung	lung
14	chr3:85036200-85038400	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:85036600-85037000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:85036600-85037400	Enhancers	Brain Substantia Nigra	brain
17	chr3:85036600-85037800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:85036600-85038400	Enhancers	Brain Hippocampus Middle	brain

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