Variant report

Variant	rs7749793
Chromosome Location	chr6:30060364-30060365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:30059166-30060383	HCT-116	colon:	n/a	n/a
2	MAX	chr6:30059111-30060374	HCT-116	colon:	n/a	chr6:30059640-30059650

No.	Distal block	Cell Line	Cell type
1	chr6:30059663..30061808-chr6:30067229..30070058,2	K562	blood:
2	chr6:30059482..30063646-chr6:30064744..30071169,8	MCF-7	breast:
3	chr6:30041901..30046365-chr6:30059553..30065121,9	MCF-7	breast:
4	chr6:30058600..30061539-chr6:30062741..30064895,3	MCF-7	breast:
5	chr6:30039555..30048654-chr6:30056865..30065735,15	MCF-7	breast:
6	chr6:30027765..30030437-chr6:30060037..30061710,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252901	TF binding region
ENSG00000066379	Chromatin interaction
ENSG00000204623	Chromatin interaction
ENSG00000204618	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10947051	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10947052	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1108052	0.94[ASN][1000 genomes]
rs1108053	0.98[ASN][1000 genomes]
rs1110448	0.98[ASN][1000 genomes]
rs1156533	0.93[ASN][1000 genomes]
rs11751554	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11753939	0.82[ASN][1000 genomes]
rs11755853	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11758516	0.83[ASN][1000 genomes]
rs11965379	0.82[ASN][1000 genomes]
rs11965540	0.82[ASN][1000 genomes]
rs11967911	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968367	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11968434	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11969687	0.88[AFR][1000 genomes]
rs1264694	0.90[ASN][1000 genomes]
rs1264695	0.98[ASN][1000 genomes]
rs1264696	0.98[ASN][1000 genomes]
rs1264702	1.00[ASN][1000 genomes]
rs12661731	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12663534	0.83[ASN][1000 genomes]
rs17187791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194146	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17194153	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194174	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072110	0.95[ASN][1000 genomes]
rs2285805	0.82[ASN][1000 genomes]
rs2394735	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2523994	0.95[ASN][1000 genomes]
rs28454792	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28771211	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28780078	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28780079	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28780080	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28780081	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28780082	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3188482	0.82[ASN][1000 genomes]
rs3807032	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3807033	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56066609	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57195817	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57518619	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58099508	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs60418878	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61666432	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6457149	0.96[ASN][1000 genomes]
rs73424274	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73728107	0.82[ASN][1000 genomes]
rs7741418	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7753935	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761563	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7765810	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7771071	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs916569	0.98[ASN][1000 genomes]
rs916570	0.98[ASN][1000 genomes]
rs9261384	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9261385	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv884051	chr6:30059451-30071279	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv884050	chr6:30059451-30071330	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv884052	chr6:30059592-30067681	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv884053	chr6:30059592-30070538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30058400-30062200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:30058600-30060400	Enhancers	NHDF-Ad	bronchial
3	chr6:30058600-30061000	Enhancers	Fetal Intestine Small	intestine
4	chr6:30058600-30061400	Enhancers	Fetal Intestine Large	intestine
5	chr6:30059000-30060400	Enhancers	Adipose Nuclei	Adipose
6	chr6:30059800-30060400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:30059800-30060400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
8	chr6:30060000-30060400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr6:30060000-30060600	Enhancers	Stomach Mucosa	stomach
10	chr6:30060000-30063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:30060000-30063000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:30060000-30063000	Weak transcription	A549	lung
13	chr6:30060000-30064800	Weak transcription	Gastric	stomach
14	chr6:30060200-30060400	Enhancers	Hela-S3	cervix
15	chr6:30060200-30060400	Bivalent Enhancer	HepG2	liver
16	chr6:30060200-30061000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:30060200-30063000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:30060200-30063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:30060200-30063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:30060200-30063000	Weak transcription	NHEK	skin
21	chr6:30060200-30063200	Weak transcription	HMEC	breast
22	chr6:30060200-30065600	Weak transcription	Spleen	Spleen

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