Variant report

Variant	rs9480643
Chromosome Location	chr6:106578164-106578165
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106562594..106564776-chr6:106574919..106578759,3	K562	blood:
2	chr6:106576961..106578620-chr6:106582173..106584108,2	MCF-7	breast:
3	chr6:106570219..106573350-chr6:106576379..106579233,4	K562	blood:
4	chr6:106572499..106574358-chr6:106575871..106578205,2	MCF-7	breast:
5	chr6:106577878..106578397-chr9:23112963..23113482,2	MCF-7	breast:
6	chr6:106549886..106552780-chr6:106576798..106578575,2	MCF-7	breast:
7	chr6:106574758..106578826-chr6:106580489..106584982,7	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11152965	0.96[EUR][1000 genomes]
rs11969705	0.93[ASN][1000 genomes]
rs58540441	0.95[ASN][1000 genomes]
rs60890632	0.92[ASN][1000 genomes]
rs61249140	0.92[ASN][1000 genomes]
rs6568429	0.94[ASN][1000 genomes]
rs6910707	0.93[ASN][1000 genomes]
rs6921527	0.93[ASN][1000 genomes]
rs6921649	0.93[ASN][1000 genomes]
rs73772595	0.92[ASN][1000 genomes]
rs73772598	0.92[ASN][1000 genomes]
rs73772600	0.92[ASN][1000 genomes]
rs73772602	0.95[ASN][1000 genomes]
rs7742618	0.92[ASN][1000 genomes]
rs7752226	0.96[ASN][1000 genomes]
rs7759930	0.92[ASN][1000 genomes]
rs7774260	0.94[ASN][1000 genomes]
rs9373834	0.93[AFR][1000 genomes]
rs9480642	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9480644	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9486284	0.89[ASN][1000 genomes]
rs9486285	0.98[EUR][1000 genomes]
rs9486287	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS 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	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106553600-106584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:106575000-106582400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:106576800-106578400	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr6:106576800-106578400	Enhancers	GM12878-XiMat	blood
5	chr6:106576800-106578400	Enhancers	HMEC	breast
6	chr6:106577000-106578400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:106577000-106579000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:106577200-106578400	Flanking Active TSS	Osteobl	bone
9	chr6:106577400-106578600	Enhancers	HSMM	muscle
10	chr6:106577600-106578400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:106577600-106578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:106577600-106579600	Weak transcription	Placenta	Placenta
13	chr6:106577600-106580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:106577600-106582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:106577800-106578200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:106577800-106578200	Flanking Active TSS	NHDF-Ad	bronchial
17	chr6:106577800-106578400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:106577800-106578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:106577800-106578600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:106577800-106580000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:106577800-106583000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:106578000-106578200	Active TSS	NHLF	lung
23	chr6:106578000-106578400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:106578000-106578400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:106578000-106578400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:106578000-106578400	Enhancers	A549	lung
27	chr6:106578000-106578400	Enhancers	Hela-S3	cervix
28	chr6:106578000-106578400	Enhancers	NH-A	brain
29	chr6:106578000-106578600	Enhancers	NHEK	skin
30	chr6:106578000-106579000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:106578000-106582000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:106578000-106582000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:106578000-106582200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:106578000-106582600	Weak transcription	K562	blood
35	chr6:106578000-106583200	Weak transcription	Fetal Intestine Small	intestine
36	chr6:106578000-106583200	Weak transcription	HSMMtube	muscle

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