Variant report

Variant	rs1992174
Chromosome Location	chr2:101042887-101042888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101040106..101042486-chr2:101042782..101044958,2	MCF-7	breast:
2	chr2:101023081..101025478-chr2:101042210..101044979,2	MCF-7	breast:
3	chr2:101041152..101044058-chr2:101179314..101180934,2	K562	blood:
4	chr2:101033457..101036653-chr2:101042804..101046394,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction
ENSG00000115526	Chromatin interaction
ENSG00000238029	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10198898	0.86[CEU][hapmap]
rs10207566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11902829	0.81[ASN][1000 genomes]
rs12328503	0.81[EUR][1000 genomes]
rs1465829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs17024153	0.84[ASN][1000 genomes]
rs17024203	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17024207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs17451277	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs2309799	1.00[CHB][hapmap]
rs2871338	1.00[CHB][hapmap]
rs3748934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4149522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs57758873	0.96[ASN][1000 genomes]
rs58397194	0.96[ASN][1000 genomes]
rs59388202	0.88[ASN][1000 genomes]
rs62148364	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62149932	0.88[EUR][1000 genomes]
rs6542928	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6542950	0.86[CEU][hapmap]
rs6734881	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6738454	0.86[CEU][hapmap]
rs6746039	0.88[CEU][hapmap]
rs6751629	0.85[CEU][hapmap]
rs7567130	1.00[CHB][hapmap]
rs995133	1.00[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1011990	chr2:101039956-101105648	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101034600-101043000	Weak transcription	Placenta	Placenta
2	chr2:101034800-101043800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:101041000-101044400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:101041600-101043200	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:101042000-101043000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:101042800-101043200	Enhancers	Fetal Brain Male	brain

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