Variant report

Variant	rs7191409
Chromosome Location	chr16:81372494-81372495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81347681..81349995-chr16:81369603..81372564,2	MCF-7	breast:
2	chr16:81296996..81300713-chr16:81369954..81373640,4	MCF-7	breast:
3	chr16:81309862..81312626-chr16:81370441..81373653,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1035573	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11150386	1.00[YRI][hapmap]
rs11647874	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11859133	0.87[AMR][1000 genomes]
rs12149852	0.86[LWK][hapmap];0.89[YRI][hapmap]
rs12448327	0.91[CEU][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12924233	0.85[YRI][hapmap]
rs12925347	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12925975	0.90[EUR][1000 genomes]
rs12929595	0.92[AMR][1000 genomes]
rs12929776	0.84[AMR][1000 genomes]
rs17188615	1.00[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs1862843	0.95[CEU][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1895539	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946285	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1946287	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1981884	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2059280	0.84[AMR][1000 genomes]
rs2081264	0.92[AMR][1000 genomes]
rs2216771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2317127	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2550738	0.91[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs2550749	0.85[GIH][hapmap]
rs2608554	0.88[EUR][1000 genomes]
rs2615701	0.91[CEU][hapmap]
rs2911441	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs310025	0.86[CEU][hapmap];0.85[GIH][hapmap]
rs310032	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs310034	0.89[EUR][1000 genomes]
rs310035	1.00[CEU][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes]
rs4625712	0.82[AMR][1000 genomes]
rs4889299	0.94[CEU][hapmap];0.84[AMR][1000 genomes]
rs4889300	0.89[AMR][1000 genomes]
rs4889302	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4889307	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs4889308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564868	0.93[LWK][hapmap];0.89[YRI][hapmap]
rs6564871	0.87[ASW][hapmap];0.95[CEU][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];0.96[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7184259	1.00[YRI][hapmap]
rs7196075	0.89[YRI][hapmap]
rs7202902	0.87[AMR][1000 genomes]
rs7630	0.82[CEU][hapmap]
rs889747	0.82[AMR][1000 genomes]
rs918773	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs918775	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9673346	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9673795	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9674190	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9889027	0.82[AMR][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:81353400-81373200	Weak transcription	HUVEC	blood vessel
6	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:81353800-81372600	Weak transcription	A549	lung
8	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:81354400-81372800	Weak transcription	HSMM	muscle
10	chr16:81357800-81375800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:81360600-81373000	Weak transcription	Brain Angular Gyrus	brain
12	chr16:81363000-81372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:81363800-81379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:81364000-81374600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:81366400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:81366400-81379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:81366400-81380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:81366600-81374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:81368400-81374000	Weak transcription	Fetal Intestine Small	intestine
20	chr16:81368400-81374400	Weak transcription	Primary T cells from cord blood	blood
21	chr16:81368800-81374000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:81369800-81374800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:81369800-81379400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:81371000-81374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:81372200-81373800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr16:81372400-81372600	Enhancers	Esophagus	oesophagus
27	chr16:81372400-81372600	Enhancers	Lung	lung

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