Variant report

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:46672085..46674380-chr20:52701602..52704252,2	MCF-7	breast:
2	chr20:46419051..46422145-chr20:52700320..52703232,3	MCF-7	breast:
3	chr20:41010402..41013631-chr20:52701428..52704425,3	MCF-7	breast:
4	chr17:56734545..56738013-chr20:52696672..52702961,12	MCF-7	breast:
5	chr17:62229187..62231839-chr20:52701894..52704628,2	MCF-7	breast:
6	chr20:46475461..46477684-chr20:52701066..52703629,2	MCF-7	breast:
7	chr12:16502598..16504840-chr20:52700346..52703261,2	MCF-7	breast:
8	chr20:52701722..52703762-chr20:55824314..55825993,2	MCF-7	breast:
9	chr17:57913465..57916226-chr20:52700387..52703244,3	MCF-7	breast:
10	chr20:52701739..52704382-chr20:55838854..55841545,2	MCF-7	breast:
11	chr20:46412955..46417498-chr20:52699874..52705785,9	MCF-7	breast:
12	chr20:52701512..52703226-chr20:55844819..55846482,2	MCF-7	breast:
13	chr17:56707745..56710309-chr20:52697502..52703858,9	MCF-7	breast:
14	chr17:59710076..59712294-chr20:52701398..52703517,2	MCF-7	breast:
15	chr17:56735122..56737701-chr20:52700294..52703497,3	MCF-7	breast:
16	chr17:59939183..59941685-chr20:52702690..52704309,2	MCF-7	breast:
17	chr17:60003995..60006206-chr20:52702251..52704828,2	MCF-7	breast:
18	chr20:46412091..46416534-chr20:52700009..52706788,8	MCF-7	breast:
19	chr20:52702738..52703356-chrX:30164609..30165478,2	MCF-7	breast:
20	chr20:52702398..52702973-chr20:52740319..52741283,2	MCF-7	breast:
21	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12625718	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16998896	1.00[EUR][1000 genomes]
rs368195	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs377887	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs383469	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs388759	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs391906	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs392236	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6013885	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6127091	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6127092	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6127093	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52699200-52707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr20:52700800-52702800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr20:52700800-52703800	Enhancers	Stomach Mucosa	stomach
4	chr20:52701000-52706600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr20:52701200-52703000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:52701600-52702800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:52701800-52703000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr20:52701800-52703200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:52701800-52703200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr20:52701800-52703800	Enhancers	Adipose Nuclei	Adipose
11	chr20:52702000-52703800	Enhancers	A549	lung
12	chr20:52702200-52707600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:52702400-52703000	Enhancers	HSMM	muscle
14	chr20:52702400-52703400	Enhancers	Gastric	stomach
15	chr20:52702600-52702800	Enhancers	Colonic Mucosa	Colon
16	chr20:52702600-52702800	Active TSS	HSMMtube	muscle
17	chr20:52702600-52703400	Bivalent Enhancer	HepG2	liver
18	chr20:52702600-52704400	Enhancers	Sigmoid Colon	Sigmoid Colon

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