Variant report

Variant	rs11572768
Chromosome Location	chr1:216740499-216740500
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216740049..216740610-chr1:217507843..217508439,2	MCF-7	breast:
2	chr1:216483926..216484436-chr1:216740017..216740785,2	MCF-7	breast:
3	chr1:216479663..216480513-chr1:216739675..216740627,3	MCF-7	breast:
4	chr1:216739850..216740707-chr1:216769423..216770025,2	MCF-7	breast:
5	chr1:216739958..216740765-chr1:216915802..216916535,2	MCF-7	breast:
6	chr1:216480349..216481313-chr1:216739870..216740593,2	MCF-7	breast:
7	chr1:216739906..216740741-chr1:216915729..216916621,3	MCF-7	breast:
8	chr1:216483841..216485069-chr1:216739823..216740961,7	MCF-7	breast:

No data

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10495030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11117618	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11117629	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs11117630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs11117631	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11572723	0.82[CEU][hapmap]
rs11572745	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs11572747	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11572764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572799	1.00[YRI][hapmap]
rs11577585	0.82[CEU][hapmap]
rs1498284	0.84[CEU][hapmap]
rs17042848	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17611906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668665	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17669321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs17671115	0.84[CEU][hapmap]
rs1833039	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs1976331	0.84[CEU][hapmap]
rs2152472	0.84[CEU][hapmap]
rs2173372	0.84[CEU][hapmap]
rs35508539	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55635948	0.85[EUR][1000 genomes]
rs72735199	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737309	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72737310	0.85[EUR][1000 genomes]
rs72737313	0.85[EUR][1000 genomes]
rs72737316	0.85[EUR][1000 genomes]
rs72737323	0.85[EUR][1000 genomes]
rs72737329	0.83[EUR][1000 genomes]
rs72737330	0.82[EUR][1000 genomes]
rs72737331	0.83[EUR][1000 genomes]
rs72737332	0.83[EUR][1000 genomes]
rs7520795	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs945452	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv4565	chr1:216720070-216765053	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520098	chr1:216736138-216745599	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv468138	chr1:216736138-216762158	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv549203	chr1:216736138-216762158	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
2	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
3	chr1:216735800-216755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:216736800-216743400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:216736800-216744400	Weak transcription	Psoas Muscle	Psoas
6	chr1:216739200-216744600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:216739600-216748800	Weak transcription	Fetal Heart	heart
8	chr1:216739800-216742200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:216739800-216757200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:216740400-216742600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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