Variant report

Variant	rs3807509
Chromosome Location	chr7:16792096-16792097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:39676906..39679215-chr7:16792005..16794424,2	MCF-7	breast:
2	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000171346	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10233465	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10238328	0.84[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.90[ASN][1000 genomes]
rs1149519	0.89[ASN][1000 genomes]
rs1149522	0.84[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.80[TSI][hapmap];0.90[ASN][1000 genomes]
rs1149524	0.84[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.90[ASN][1000 genomes]
rs1149526	0.84[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12530923	0.84[CHB][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12535558	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13244013	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1997114	0.96[ASN][1000 genomes]
rs1997115	0.99[ASN][1000 genomes]
rs2085706	0.98[ASN][1000 genomes]
rs2290836	0.84[CHB][hapmap]
rs2290837	0.84[CHB][hapmap]
rs34614062	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3779051	0.84[CHB][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs3807490	0.84[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs3807508	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3823652	0.84[CHB][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4400279	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4721535	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4721536	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721538	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs55802535	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62441050	0.84[ASN][1000 genomes]
rs6951449	0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs6962578	0.82[ASN][1000 genomes]
rs6975847	0.84[CHB][hapmap];0.91[CHD][hapmap];0.98[ASN][1000 genomes]
rs6980298	0.82[ASN][1000 genomes]
rs706055	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73299615	0.82[ASN][1000 genomes]
rs7781646	0.87[ASN][1000 genomes]
rs7809197	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs818803	0.82[GIH][hapmap];0.80[TSI][hapmap];0.86[ASN][1000 genomes]
rs818804	0.85[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 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	chr7:16781400-16793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:16783600-16792800	Weak transcription	NH-A	brain
3	chr7:16784400-16792800	Weak transcription	Right Atrium	heart
4	chr7:16784800-16792800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:16785600-16792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:16785600-16792600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:16785800-16792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:16787000-16793000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:16787200-16793000	Weak transcription	Left Ventricle	heart
10	chr7:16787800-16792800	Weak transcription	Adipose Nuclei	Adipose
11	chr7:16788600-16792800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:16788600-16793000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:16789800-16792800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:16790800-16792800	Weak transcription	K562	blood
15	chr7:16791800-16793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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