Variant report

Variant	rs73348773
Chromosome Location	chr20:25046268-25046269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25046117..25046996-chr20:25159492..25160465,5	MCF-7	breast:
2	chr20:25038155..25040423-chr20:25044509..25046353,3	MCF-7	breast:
3	chr20:24974184..24976552-chr20:25044724..25047326,32	MCF-7	breast:
4	chr20:25046045..25046980-chr20:25057133..25058078,4	MCF-7	breast:
5	chr20:24975151..24976233-chr20:25045881..25047015,16	MCF-7	breast:
6	chr20:24974024..24975149-chr20:25046038..25047090,7	MCF-7	breast:
7	chr20:24959138..24961345-chr20:25043562..25046337,2	MCF-7	breast:
8	chr20:24980657..24981409-chr20:25046140..25046996,4	MCF-7	breast:
9	chr20:24975304..24980368-chr20:25042845..25047055,6	MCF-7	breast:
10	chr20:25046140..25046670-chr20:25159575..25160213,2	MCF-7	breast:
11	chr20:24972253..24980445-chr20:25044479..25049663,13	MCF-7	breast:
12	chr20:24974985..24976149-chr20:25046073..25047055,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154930	Chromatin interaction
ENSG00000101474	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11904887	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908084	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57714846	1.00[AMR][1000 genomes]
rs58083478	0.96[AFR][1000 genomes]
rs59731128	0.96[AFR][1000 genomes]
rs60687375	0.98[AFR][1000 genomes]
rs61740272	1.00[AMR][1000 genomes]
rs7273872	0.96[AFR][1000 genomes]
rs73331209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333137	1.00[AMR][1000 genomes]
rs73333167	1.00[AMR][1000 genomes]
rs73333174	1.00[AMR][1000 genomes]
rs73335011	1.00[AMR][1000 genomes]
rs73348752	0.92[AFR][1000 genomes]
rs73348757	0.96[AFR][1000 genomes]
rs8118553	0.83[AFR][1000 genomes]
rs8124085	1.00[AMR][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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25044200-25046400	Enhancers	Brain Substantia Nigra	brain
2	chr20:25044600-25047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25044800-25046400	Enhancers	Right Ventricle	heart
4	chr20:25044800-25046800	Enhancers	Brain Anterior Caudate	brain
5	chr20:25044800-25046800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr20:25044800-25047400	Enhancers	Placenta	Placenta
7	chr20:25045000-25047400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr20:25045200-25046400	Enhancers	Brain Angular Gyrus	brain
9	chr20:25045200-25046400	Enhancers	Left Ventricle	heart
10	chr20:25045200-25046600	Enhancers	Brain Cingulate Gyrus	brain
11	chr20:25045200-25046800	Enhancers	Brain Hippocampus Middle	brain
12	chr20:25045200-25046800	Enhancers	Stomach Mucosa	stomach
13	chr20:25045200-25047200	Enhancers	Fetal Intestine Large	intestine
14	chr20:25045400-25046400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr20:25045400-25046400	Enhancers	Fetal Thymus	thymus
16	chr20:25045400-25046800	Enhancers	Fetal Intestine Small	intestine
17	chr20:25045400-25047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:25045600-25046400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:25045600-25046400	Enhancers	Dnd41	blood
20	chr20:25045600-25046600	Flanking Active TSS	HepG2	liver
21	chr20:25045600-25046800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:25045600-25046800	Enhancers	Liver	Liver
23	chr20:25045800-25046400	Enhancers	Brain Germinal Matrix	brain
24	chr20:25045800-25046400	Bivalent Enhancer	Colonic Mucosa	Colon
25	chr20:25045800-25046400	Enhancers	Pancreas	Pancrea
26	chr20:25045800-25046600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:25045800-25046600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr20:25045800-25046600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr20:25045800-25046800	Enhancers	Primary B cells from peripheral blood	blood
30	chr20:25045800-25046800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr20:25045800-25046800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr20:25045800-25048000	Enhancers	Gastric	stomach
33	chr20:25046000-25046400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:25046000-25046400	Enhancers	Spleen	Spleen
35	chr20:25046000-25046600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr20:25046000-25046800	Enhancers	Right Atrium	heart
37	chr20:25046200-25046400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:25046200-25046400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr20:25046200-25046400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr20:25046200-25046400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr20:25046200-25046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:25046200-25046400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:25046200-25046400	Enhancers	Esophagus	oesophagus
44	chr20:25046200-25046400	Enhancers	Lung	lung
45	chr20:25046200-25046400	Bivalent Enhancer	NHDF-Ad	bronchial
46	chr20:25046200-25046600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr20:25046200-25046600	Enhancers	Primary B cells from cord blood	blood
48	chr20:25046200-25046600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr20:25046200-25046600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr20:25046200-25046600	Enhancers	Colon Smooth Muscle	Colon

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