Variant report

Variant	rs2047430
Chromosome Location	chr1:216740513-216740514
allele	A/G
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

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
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

No data

No data

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495031	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10863253	0.82[JPT][hapmap]
rs10863254	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10863255	0.96[ASN][1000 genomes]
rs10863257	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11117619	0.91[ASN][1000 genomes]
rs11117622	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11117623	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11117625	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12123789	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12133226	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12354357	0.81[EUR][1000 genomes]
rs17669502	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1984137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2030059	0.81[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs7529289	0.82[AMR][1000 genomes]

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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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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