Variant report

Variant	rs6432680
Chromosome Location	chr2:151082639-151082640
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	chr2:151070416..151072908-chr2:151081382..151084515,3	MCF-7	breast:
2	chr2:151081886..151084694-chr2:151342763..151345622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10170246	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10174836	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10184785	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10190277	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10195650	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10207680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1031212	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1031213	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1031214	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1031215	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1031216	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10930038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1155072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682154	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687868	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11694747	0.97[EUR][1000 genomes]
rs11886061	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11886070	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12692632	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12692633	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12692644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12986816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12996112	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13024074	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13024803	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13028397	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13419478	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430267	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1348741	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1374157	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2376603	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4260269	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4283445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295034	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4296450	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4318407	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4434022	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4435478	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4461280	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4464296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4481007	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4560135	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4597551	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4597552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4600677	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4629182	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4667341	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667343	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62170020	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432682	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432683	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432700	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs6650776	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733918	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7422660	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7557353	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7564853	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566441	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7569176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575612	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7580941	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581265	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581723	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7592745	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7600792	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7604483	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9678528	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs974902	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv2968	chr2:151076820-151089705	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6432680	UCHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151079000-151084600	Weak transcription	Fetal Lung	lung
2	chr2:151080200-151084800	Weak transcription	Stomach Mucosa	stomach
3	chr2:151081200-151083000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:151082400-151083200	Enhancers	Fetal Brain Female	brain
5	chr2:151082600-151083200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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