Variant report

Variant	rs12214600
Chromosome Location	chr6:39268736-39268737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:39195179..39198442-chr6:39267374..39272549,7	K562	blood:
2	chr6:39243650..39250520-chr6:39262135..39271800,15	MCF-7	breast:
3	chr6:39267482..39269226-chr6:39269492..39271428,2	MCF-7	breast:
4	chr6:39131553..39138589-chr6:39265255..39275264,18	MCF-7	breast:
5	chr6:39235849..39239507-chr6:39267408..39272188,7	MCF-7	breast:
6	chr6:39235093..39238743-chr6:39267391..39271695,7	MCF-7	breast:
7	chr6:39240488..39242738-chr6:39266250..39269664,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164626	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1005951	0.85[ASN][1000 genomes]
rs1005952	0.85[ASN][1000 genomes]
rs10947796	0.80[EUR][1000 genomes]
rs10947801	0.88[ASN][1000 genomes]
rs10947802	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11753890	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1182864	1.00[LWK][hapmap]
rs11961984	0.90[ASN][1000 genomes]
rs12194671	0.83[AFR][1000 genomes]
rs12195376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12202277	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12202455	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12207643	0.92[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12209091	0.88[ASN][1000 genomes]
rs12210847	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12211098	0.92[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13214473	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535497	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885616	0.88[ASN][1000 genomes]
rs1885617	0.88[ASN][1000 genomes]
rs1885618	0.88[ASN][1000 genomes]
rs1885621	0.88[ASN][1000 genomes]
rs2758882	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758883	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758884	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758885	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758887	0.88[ASN][1000 genomes]
rs2758888	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758889	0.88[ASN][1000 genomes]
rs2758890	0.88[ASN][1000 genomes]
rs2758891	0.88[ASN][1000 genomes]
rs2758893	0.88[ASN][1000 genomes]
rs2758894	0.88[ASN][1000 genomes]
rs2758895	0.84[ASN][1000 genomes]
rs2758897	0.88[ASN][1000 genomes]
rs2758898	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758899	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2758900	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2758907	0.82[ASN][1000 genomes]
rs2815048	0.88[ASN][1000 genomes]
rs2815049	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2815050	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2815051	0.88[ASN][1000 genomes]
rs2815052	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2815053	0.81[ASN][1000 genomes]
rs2815054	0.88[ASN][1000 genomes]
rs2815057	0.88[ASN][1000 genomes]
rs36044810	0.82[ASN][1000 genomes]
rs4711593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4714234	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4714235	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59582961	0.86[ASN][1000 genomes]
rs62397166	0.81[ASN][1000 genomes]
rs62397167	0.88[ASN][1000 genomes]
rs62397168	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71556989	0.86[ASN][1000 genomes]
rs734408	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9462515	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9471040	0.92[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9471043	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9471045	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv830645	chr6:39227601-39408310	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39262600-39270600	Weak transcription	Colonic Mucosa	Colon
2	chr6:39265400-39270800	Weak transcription	Fetal Lung	lung
3	chr6:39265400-39270800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:39265600-39280800	Weak transcription	Right Atrium	heart
5	chr6:39266200-39270800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:39266400-39269000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:39266600-39270200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:39266600-39270400	Weak transcription	Fetal Intestine Small	intestine
9	chr6:39266600-39270600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:39266600-39270600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:39267000-39270200	Weak transcription	Liver	Liver
12	chr6:39267400-39269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:39267600-39269200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:39267600-39270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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