Variant report

Variant	rs6427620
Chromosome Location	chr1:161685138-161685139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161683127..161685809-chr1:161696033..161698160,3	MCF-7	breast:
2	chr1:161677337..161680317-chr1:161682916..161686407,3	MCF-7	breast:
3	chr1:161675805..161679320-chr1:161682670..161685328,3	MCF-7	breast:
4	chr1:161683948..161686856-chr1:161718462..161720614,2	K562	blood:
5	chr1:161683932..161685963-chr1:161703993..161706615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241347	Chromatin interaction
ENSG00000081721	Chromatin interaction
ENSG00000132185	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10494356	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10799934	0.81[ASN][1000 genomes]
rs10917746	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10917753	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10917754	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10917809	0.82[ASN][1000 genomes]
rs11586479	0.81[ASN][1000 genomes]
rs12048671	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12567036	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16858529	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16858733	0.82[ASN][1000 genomes]
rs1954174	0.96[ASN][1000 genomes]
rs2050887	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56270452	0.89[EUR][1000 genomes]
rs6697814	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67476681	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72704099	0.88[ASN][1000 genomes]
rs7522783	0.81[ASN][1000 genomes]
rs7549967	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs905592	0.90[ASN][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1822760	chr1:161480943-161687379	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv946403	chr1:161684490-161685490	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161676200-161692000	Weak transcription	Spleen	Spleen
2	chr1:161682600-161689600	Weak transcription	K562	blood
3	chr1:161683800-161686000	Weak transcription	GM12878-XiMat	blood
4	chr1:161683800-161686800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:161684200-161686600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:161684600-161688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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