Variant report

Variant	rs1640813
Chromosome Location	chr1:223322395-223322396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223314781..223317193-chr1:223322328..223323932,2	MCF-7	breast:
2	chr1:223322186..223322942-chr1:223617607..223618444,2	MCF-7	breast:
3	chr1:223322225..223323066-chr1:223842691..223843630,2	MCF-7	breast:
4	chr1:223322245..223323048-chr1:223608788..223609563,2	MCF-7	breast:
5	chr1:223305679..223307985-chr1:223321092..223323680,2	K562	blood:
6	chr1:223322294..223323083-chr1:223870827..223871458,2	MCF-7	breast:
7	chr1:223322170..223323076-chr1:223617469..223618437,3	MCF-7	breast:
8	chr1:223322286..223323076-chr1:223617469..223617980,2	MCF-7	breast:
9	chr1:223322294..223323083-chr1:223870827..223871458,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10489492	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11486079	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11488549	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1361642	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1418145	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1418146	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1612398	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1640803	0.82[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[ASN][1000 genomes]
rs1640809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640811	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs1640812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640814	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640815	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640816	0.82[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1640817	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640818	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640819	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640820	0.95[ASN][1000 genomes]
rs1640823	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17163741	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17163742	1.00[CEU][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17163743	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1773738	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773744	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773749	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1773753	0.93[ASN][1000 genomes]
rs1773754	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1773761	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773763	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773765	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773766	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773767	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773768	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241095	0.82[ASN][1000 genomes]
rs2256707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302597	0.95[ASN][1000 genomes]
rs2353474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430400	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487834	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34136554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552707	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34970812	0.89[EUR][1000 genomes]
rs35349967	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35579200	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35705006	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35802580	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35953839	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3768284	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs4393150	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45501199	0.82[ASN][1000 genomes]
rs5744135	0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs5744138	0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs5744139	0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs5744140	0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs5744143	0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs5744145	0.82[ASN][1000 genomes]
rs5744147	0.82[ASN][1000 genomes]
rs5744149	0.95[CHD][hapmap];0.82[ASN][1000 genomes]
rs66553000	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66662427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66757010	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66938974	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67573944	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67623966	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67639934	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67833495	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67883821	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712862	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs723961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743851	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743852	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73118159	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73118168	0.93[ASN][1000 genomes]
rs759303	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763389	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs851151	0.95[CHD][hapmap];0.86[JPT][hapmap]
rs988241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988243	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs988244	1.00[CEU][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs988779	0.95[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223318400-223322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:223321400-223324200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:223321600-223323000	Weak transcription	Thymus	Thymus
5	chr1:223321800-223325400	Weak transcription	Gastric	stomach
6	chr1:223322000-223323400	Enhancers	Placenta	Placenta

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