Variant report

Variant	rs2339694
Chromosome Location	chr1:153455751-153455752
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
2	chr1:153450402..153452356-chr1:153454698..153456211,2	MCF-7	breast:
3	chr1:153447398..153450153-chr1:153455745..153457768,2	MCF-7	breast:
4	chr1:153450588..153453299-chr1:153453645..153457534,3	MCF-7	breast:
5	chr1:153368085..153370692-chr1:153454166..153456468,2	K562	blood:

Variant related genes	Relation type
ENSG00000163220	Chromatin interaction
ENSG00000224784	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1359627	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1409367	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1409368	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1555886	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16835341	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16835343	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1853956	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1998844	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2026563	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2986206	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2986210	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2986214	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3006438	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3014843	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3014845	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3014849	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3014851	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3125233	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6587742	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6667320	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719081	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9435988	0.81[EUR][1000 genomes]
rs9633411	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153451000-153467400	Weak transcription	Ovary	ovary
2	chr1:153451600-153456200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:153451600-153456200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:153451600-153456400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:153451800-153456200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:153451800-153456400	Weak transcription	Fetal Heart	heart
7	chr1:153452000-153456200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:153452000-153456200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153452000-153456200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:153455400-153462200	Weak transcription	Right Ventricle	heart

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