Variant report

Variant	rs6443687
Chromosome Location	chr3:179752759-179752760
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	chr3:179750882..179753749-chr3:179769814..179771907,2	K562	blood:
2	chr3:179750786..179753749-chr3:179769814..179771387,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11713683	0.80[ASN][1000 genomes]
rs13324196	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13325101	0.84[ASN][1000 genomes]
rs13325206	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522115	0.80[ASN][1000 genomes]
rs1529269	0.83[ASN][1000 genomes]
rs1851352	0.85[ASN][1000 genomes]
rs1851353	0.85[ASN][1000 genomes]
rs2204095	0.85[ASN][1000 genomes]
rs56397887	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59205301	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61623675	0.98[ASN][1000 genomes]
rs6443685	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6443688	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787707	0.80[AMR][1000 genomes]
rs6788776	0.84[ASN][1000 genomes]
rs6797922	0.82[ASN][1000 genomes]
rs6800148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73883446	0.83[AMR][1000 genomes]
rs73883462	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73883468	0.80[ASN][1000 genomes]
rs73883469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73883479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73883495	0.83[ASN][1000 genomes]
rs7615924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7630527	0.80[ASN][1000 genomes]
rs7640838	0.85[ASN][1000 genomes]
rs939824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs939825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940522	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9809603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9823631	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9826864	0.84[ASN][1000 genomes]
rs9828423	0.83[ASN][1000 genomes]
rs9828621	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9833738	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9866193	0.83[ASN][1000 genomes]
rs9870941	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9881655	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179726000-179754200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:179742600-179753600	Weak transcription	Pancreas	Pancrea
3	chr3:179750000-179753000	Flanking Active TSS	Dnd41	blood
4	chr3:179750400-179753400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:179750600-179755600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr3:179751200-179753400	Active TSS	Fetal Brain Female	brain
7	chr3:179751400-179753000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr3:179751400-179755400	Active TSS	Brain Hippocampus Middle	brain
9	chr3:179751400-179755600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:179752000-179753400	Active TSS	Brain Cingulate Gyrus	brain
11	chr3:179752200-179753400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr3:179752200-179754000	Active TSS	Brain Substantia Nigra	brain
13	chr3:179752200-179755600	Active TSS	Brain Angular Gyrus	brain
14	chr3:179752400-179752800	Bivalent Enhancer	Fetal Brain Male	brain

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