Variant report

Variant	rs7586953
Chromosome Location	chr2:208967208-208967209
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208966420..208967322-chr2:209013248..209014210,3	MCF-7	breast:
2	chr2:208966807..208967387-chr2:209119787..209120319,2	MCF-7	breast:
3	chr2:208966384..208967489-chr2:209118693..209119619,6	MCF-7	breast:
4	chr2:208965617..208968343-chr2:209118826..209120750,2	MCF-7	breast:
5	chr2:208966373..208967393-chr2:209119818..209120821,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10178641	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10188278	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10188286	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10192276	0.81[EUR][1000 genomes]
rs10198963	0.91[EUR][1000 genomes]
rs1020581	0.94[ASN][1000 genomes]
rs10497893	0.98[ASN][1000 genomes]
rs11677829	0.90[ASN][1000 genomes]
rs11684908	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690797	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12988963	0.88[EUR][1000 genomes]
rs13006347	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13008550	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13034094	0.94[ASN][1000 genomes]
rs1806338	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2084872	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34126491	0.89[ASN][1000 genomes]
rs34274138	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34577840	0.94[ASN][1000 genomes]
rs34589201	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34765959	0.94[ASN][1000 genomes]
rs35934862	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35960349	0.95[ASN][1000 genomes]
rs55770589	0.94[ASN][1000 genomes]
rs55999272	0.88[ASN][1000 genomes]
rs60163320	0.94[ASN][1000 genomes]
rs6435407	0.90[ASN][1000 genomes]
rs6435411	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6709879	0.94[ASN][1000 genomes]
rs6713275	0.88[EUR][1000 genomes]
rs6716279	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6728327	0.88[EUR][1000 genomes]
rs6744189	0.90[ASN][1000 genomes]
rs6745137	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6745370	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6747966	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6751131	0.91[ASN][1000 genomes]
rs6757791	0.88[ASN][1000 genomes]
rs6758319	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759995	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6761316	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67900982	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs732008	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs732009	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7349197	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7586866	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587397	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589556	0.93[EUR][1000 genomes]
rs7590593	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7604207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208962400-208968600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:208964600-208967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:208965000-208976600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:208966000-208967400	Enhancers	Dnd41	blood
5	chr2:208966600-208967400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:208966600-208967400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:208966800-208967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:208966800-208968400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:208967000-208967400	Enhancers	Fetal Brain Male	brain
10	chr2:208967000-208967400	Enhancers	Fetal Brain Female	brain
11	chr2:208967000-208968200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:208967200-208967400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:208967200-208967400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:208967200-208968600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:208967200-208968600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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