Variant report

Variant	rs6701218
Chromosome Location	chr1:170492205-170492206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:170491789..170493587-chr1:170499674..170501678,2	MCF-7	breast:
2	chr1:170489857..170492306-chr1:170500327..170502278,3	K562	blood:
3	chr1:170491631..170497954-chr1:170498410..170503138,12	MCF-7	breast:
4	chr1:170490274..170493135-chr1:170498401..170502278,3	K562	blood:

Variant related genes	Relation type
ENSG00000120370	Chromatin interaction
ENSG00000231407	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10157476	0.81[AFR][1000 genomes]
rs10733056	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs10753814	0.94[AFR][1000 genomes]
rs10753815	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs10800527	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919425	0.91[AFR][1000 genomes]
rs10919429	1.00[AMR][1000 genomes]
rs12068399	1.00[AMR][1000 genomes]
rs12116909	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs1333133	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs1333142	0.96[YRI][hapmap]
rs1333150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333152	0.81[AFR][1000 genomes]
rs1333155	0.91[AFR][1000 genomes]
rs1333156	0.91[AFR][1000 genomes]
rs1412892	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412894	0.81[AFR][1000 genomes]
rs1412895	0.91[AFR][1000 genomes]
rs1537390	0.96[YRI][hapmap]
rs1537397	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs1576979	0.90[AFR][1000 genomes]
rs1576980	0.89[AFR][1000 genomes]
rs16863435	1.00[AMR][1000 genomes]
rs1855221	0.91[AFR][1000 genomes]
rs1928716	0.96[YRI][hapmap]
rs1930632	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2104918	0.88[AFR][1000 genomes]
rs2150029	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs2225322	0.92[YRI][hapmap];0.94[AFR][1000 genomes]
rs2421325	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2901401	0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs3980839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4233350	0.85[AFR][1000 genomes]
rs4325194	0.95[AFR][1000 genomes]
rs4402174	0.91[AFR][1000 genomes]
rs4415629	0.97[AFR][1000 genomes]
rs4656769	0.86[AFR][1000 genomes]
rs4656775	0.93[AFR][1000 genomes]
rs4656777	0.93[AFR][1000 genomes]
rs4656779	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs4656783	0.92[AFR][1000 genomes]
rs6427248	0.82[AFR][1000 genomes]
rs6427249	0.82[AFR][1000 genomes]
rs6427260	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427261	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657164	0.91[AFR][1000 genomes]
rs6660575	0.90[AFR][1000 genomes]
rs6664037	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669308	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670724	0.89[AFR][1000 genomes]
rs6671312	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676081	0.90[AFR][1000 genomes]
rs6693763	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699057	0.86[AFR][1000 genomes]
rs6703801	0.85[AFR][1000 genomes]
rs7523665	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531125	0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs7538125	0.91[AFR][1000 genomes]
rs7548443	0.93[AFR][1000 genomes]
rs7553254	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170487200-170500200	Weak transcription	Right Ventricle	heart
2	chr1:170488600-170492600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:170489600-170492400	Enhancers	NHLF	lung
4	chr1:170489800-170492400	Enhancers	NHDF-Ad	bronchial
5	chr1:170490400-170492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:170492000-170500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:170492200-170492400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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