Variant report

Variant	rs9349324
Chromosome Location	chr6:45667018-45667019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45662691..45665190-chr6:45666130..45668359,2	MCF-7	breast:
2	chr6:45664978..45667526-chr6:45671637..45673796,2	MCF-7	breast:
3	chr6:45643355..45645914-chr6:45665891..45668541,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12661654	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12663985	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12665728	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1388242	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1388244	0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1491139	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491144	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1491145	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1994682	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2035791	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2396505	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2637578	0.82[AMR][1000 genomes]
rs2637580	0.80[AMR][1000 genomes]
rs2782658	0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs2782659	0.81[CHB][hapmap];0.82[AMR][1000 genomes]
rs2782660	0.86[CHB][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes]
rs2782663	0.81[AMR][1000 genomes]
rs2782666	0.83[AMR][1000 genomes]
rs321321	0.83[CEU][hapmap];0.93[TSI][hapmap]
rs321322	0.81[CHB][hapmap];0.80[AMR][1000 genomes]
rs321324	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs321325	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4326224	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714864	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458457	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6458458	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919919	0.88[ASN][1000 genomes]
rs7761790	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7762915	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7774097	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9357489	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357490	0.80[ASN][1000 genomes]
rs9369572	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9395110	0.90[ASN][1000 genomes]
rs9395111	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9472541	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9472547	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9472552	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472555	0.86[ASN][1000 genomes]
rs9472557	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45664200-45672400	Enhancers	Hela-S3	cervix
2	chr6:45664400-45667400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:45666000-45667200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:45666000-45667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:45666000-45669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:45666000-45670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:45666000-45670600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:45666000-45671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:45666200-45670200	Weak transcription	NHLF	lung
10	chr6:45666200-45670600	Weak transcription	Osteobl	bone
11	chr6:45666200-45672000	Weak transcription	HSMM	muscle
12	chr6:45666400-45667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:45666400-45670800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:45666600-45669600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:45666600-45670000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:45666600-45670000	Weak transcription	HMEC	breast
17	chr6:45666600-45670000	Weak transcription	NHEK	skin
18	chr6:45666600-45670200	Weak transcription	NH-A	brain
19	chr6:45666600-45670600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:45666800-45668000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:45667000-45667400	Weak transcription	HSMMtube	muscle
22	chr6:45667000-45667800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:45667000-45668000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:45667000-45669400	Weak transcription	NHDF-Ad	bronchial

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