Variant report

Variant	rs2284363
Chromosome Location	chr1:71489438-71489439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71484257..71486555-chr1:71489083..71490597,2	MCF-7	breast:
2	chr1:71488605..71491550-chr1:71545533..71547496,2	K562	blood:
3	chr1:71486485..71490048-chr1:71491402..71493576,3	K562	blood:
4	chr1:71488156..71490050-chr1:71494544..71497230,2	K562	blood:

Variant related genes	Relation type
ENSG00000229956	Chromatin interaction
ENSG00000132485	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11209732	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11209742	0.88[ASN][1000 genomes]
rs12035634	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12405786	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409164	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs17090778	0.81[AMR][1000 genomes]
rs1883460	0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2206343	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2256385	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2268052	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2284361	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2300162	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2300165	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2300168	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300176	0.98[ASN][1000 genomes]
rs2300177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35316490	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3819787	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4649933	0.98[ASN][1000 genomes]
rs484538	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs5024204	0.94[ASN][1000 genomes]
rs5675	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs570021	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6424414	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs646511	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs646621	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs66539808	0.92[ASN][1000 genomes]
rs6678886	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66904764	0.92[ASN][1000 genomes]
rs6698339	0.81[EUR][1000 genomes]
rs7531139	0.82[EUR][1000 genomes]
rs7534885	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7537324	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909848	0.82[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
4	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv870843	chr1:71465292-71489438	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv870576	chr1:71469583-71489438	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv871812	chr1:71481050-71489438	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv871147	chr1:71484567-71494365	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	esv3320182	chr1:71487040-71489912	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	esv3320180	chr1:71487061-71489915	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	esv3320181	chr1:71487108-71489861	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	esv3320183	chr1:71487108-71489861	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	esv3693444	chr1:71487393-71489438	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71481800-71501000	Weak transcription	K562	blood
2	chr1:71483800-71491400	Weak transcription	Aorta	Aorta
3	chr1:71485800-71494000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:71487000-71491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71487200-71495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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