Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:53516671..53518665-chr6:53582679..53584844,2	MCF-7	breast:
2	chr6:53581943..53584631-chr6:53587222..53589336,3	MCF-7	breast:
3	chr6:53357833..53358597-chr6:53583369..53584337,3	K562	blood:
4	chr6:53583327..53584025-chr6:53820811..53821451,2	MCF-7	breast:
5	chr6:53583394..53584065-chr6:53599288..53600218,2	MCF-7	breast:
6	chr6:53361794..53363880-chr6:53582795..53585369,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs6915241	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916696	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751286	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758962	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768936	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7769544	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769557	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769821	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296717	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296718	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463968	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474632	0.91[ASN][1000 genomes]
rs9474633	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474634	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2421836	chr6:53581398-53591120	Bivalent Enhancer Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53582000-53583800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:53582200-53583800	Enhancers	Fetal Intestine Large	intestine
3	chr6:53582400-53584600	Enhancers	Fetal Intestine Small	intestine
4	chr6:53582600-53588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:53582800-53583800	Enhancers	NHEK	skin
6	chr6:53582800-53588400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:53583000-53584200	Enhancers	Adipose Nuclei	Adipose
8	chr6:53583000-53590800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:53583400-53584400	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:53583400-53584600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:53583600-53584000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:53583600-53584000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:53583600-53584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:53583600-53584200	Enhancers	Fetal Kidney	kidney
15	chr6:53583800-53584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:53583800-53584200	Enhancers	Liver	Liver
17	chr6:53583800-53584200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:53583800-53584400	Enhancers	Dnd41	blood
19	chr6:53583800-53587600	Weak transcription	Pancreas	Pancrea
20	chr6:53583800-53588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:53583800-53588800	Weak transcription	Fetal Intestine Large	intestine

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