Variant report

Variant	rs73914430
Chromosome Location	chr20:52531961-52531962
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:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:52530700..52533425-chr21:39499223..39501084,2	MCF-7	breast:
2	chr20:52194811..52196558-chr20:52531148..52533348,52	MCF-7	breast:
3	chr1:115320833..115323304-chr20:52529424..52532106,2	MCF-7	breast:
4	chr20:52530757..52532897-chr20:52554790..52556353,2	K562	blood:
5	chr20:52197205..52198091-chr20:52531521..52532926,9	MCF-7	breast:
6	chr17:59713144..59713969-chr20:52531898..52532958,4	MCF-7	breast:
7	chr20:52530267..52534413-chr20:55825060..55827185,3	MCF-7	breast:
8	chr17:56707273..56710524-chr20:52529991..52534140,5	MCF-7	breast:
9	chr20:52485654..52487265-chr20:52530091..52533503,52	MCF-7	breast:
10	chr20:52482856..52483578-chr20:52531496..52532508,5	MCF-7	breast:
11	chr20:52531898..52532950-chr20:52814571..52815209,3	MCF-7	breast:
12	chr20:52531928..52532988-chr20:52679010..52679629,4	MCF-7	breast:
13	chr20:52212873..52216298-chr20:52530984..52532724,3	K562	blood:
14	chr20:52529863..52532284-chr7:111681323..111683323,2	MCF-7	breast:
15	chr20:52195055..52196214-chr20:52531746..52532899,3	MCF-7	breast:
16	chr20:52531941..52532871-chr3:64016108..64016964,3	MCF-7	breast:
17	chr20:52482916..52483597-chr20:52531915..52532688,3	MCF-7	breast:
18	chr20:52193344..52194774-chr20:52531876..52532740,5	MCF-7	breast:
19	chr20:52530874..52532442-chr3:161088474..161090760,2	MCF-7	breast:
20	chr20:52406627..52408117-chr20:52531940..52532933,4	MCF-7	breast:
21	chr20:52196785..52198931-chr20:52529560..52532531,2	K562	blood:
22	chr20:52530031..52532496-chr20:52533995..52537242,3	K562	blood:
23	chr20:52517114..52517952-chr20:52531362..52532344,2	MCF-7	breast:
24	chr20:52531482..52532883-chr20:55819325..55820651,5	MCF-7	breast:
25	chr20:44561645..44564016-chr20:52531641..52534095,2	MCF-7	breast:
26	chr17:59713035..59713881-chr20:52531946..52532524,2	MCF-7	breast:
27	chr20:52523058..52523880-chr20:52531711..52532863,3	MCF-7	breast:
28	chr20:52367336..52371354-chr20:52530304..52536216,9	K562	blood:
29	chr20:52531541..52533687-chr20:52556070..52557407,30	MCF-7	breast:
30	chr20:52531685..52532867-chr20:55819086..55820319,9	MCF-7	breast:
31	chr1:1341612..1344271-chr20:52530742..52532328,2	MCF-7	breast:
32	chr20:52486123..52487483-chr20:52531651..52533119,11	MCF-7	breast:
33	chr20:52191644..52193527-chr20:52531481..52534421,2	K562	blood:
34	chr20:52531168..52532735-chr20:55680492..55682370,2	MCF-7	breast:
35	chr20:52531111..52535135-chr20:55839386..55843893,7	MCF-7	breast:
36	chr20:52531364..52533643-chr20:55797991..55800661,2	MCF-7	breast:
37	chr20:52372554..52373337-chr20:52531937..52532904,5	MCF-7	breast:
38	chr20:52527549..52536399-chr20:55835927..55843462,13	MCF-7	breast:
39	chr20:52531918..52533793-chr20:55847031..55848624,2	MCF-7	breast:
40	chr20:52208864..52210775-chr20:52531412..52533941,2	K562	blood:
41	chr20:52229277..52230030-chr20:52531955..52532687,2	K562	blood:
42	chr20:52531951..52532798-chr3:69021216..69022129,2	MCF-7	breast:
43	chr20:52531138..52533518-chr7:158371988..158374538,2	MCF-7	breast:
44	chr20:52530776..52532486-chr20:55845190..55847073,2	MCF-7	breast:
45	chr20:52194960..52196842-chr20:52531705..52532726,7	K562	blood:
46	chr20:52402990..52404228-chr20:52531584..52532958,14	MCF-7	breast:
47	chr20:52229183..52230181-chr20:52531527..52532955,11	MCF-7	breast:
48	chr20:52531219..52535631-chr20:52536597..52539689,4	K562	blood:
49	chr20:52194187..52197112-chr20:52530766..52534185,128	MCF-7	breast:
50	chr20:46160845..46163600-chr20:52531345..52533409,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236352	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000100982	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000052723	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000231078	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000242485	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16998499	1.00[EUR][1000 genomes]
rs16998502	1.00[EUR][1000 genomes]
rs16998533	1.00[EUR][1000 genomes]
rs57886257	1.00[EUR][1000 genomes]
rs58979406	1.00[EUR][1000 genomes]
rs59046998	1.00[EUR][1000 genomes]
rs59358893	1.00[AMR][1000 genomes]
rs7262342	1.00[EUR][1000 genomes]
rs73275816	1.00[EUR][1000 genomes]
rs73275820	1.00[EUR][1000 genomes]
rs73275830	1.00[AMR][1000 genomes]
rs73914417	1.00[EUR][1000 genomes]
rs73914419	1.00[EUR][1000 genomes]
rs73914427	1.00[AMR][1000 genomes]
rs73914429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73914434	1.00[EUR][1000 genomes]
rs8114189	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52518600-52532000	Weak transcription	Esophagus	oesophagus
2	chr20:52518800-52532000	Weak transcription	Gastric	stomach
3	chr20:52527600-52532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:52529400-52533200	Weak transcription	Lung	lung
5	chr20:52529800-52532000	Enhancers	HMEC	breast
6	chr20:52530000-52532000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:52530000-52532000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:52530000-52534800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:52530800-52532000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:52530800-52532000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:52530800-52532000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr20:52530800-52532000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr20:52530800-52532000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr20:52530800-52532000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr20:52530800-52532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:52530800-52532200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr20:52530800-52532400	Flanking Active TSS	GM12878-XiMat	blood
18	chr20:52530800-52533000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr20:52530800-52533000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr20:52531000-52532000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:52531000-52532000	Flanking Active TSS	Fetal Brain Male	brain
22	chr20:52531000-52532000	Weak transcription	Pancreas	Pancrea
23	chr20:52531000-52532000	Enhancers	Spleen	Spleen
24	chr20:52531000-52532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:52531200-52532000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr20:52531200-52532000	Flanking Active TSS	Fetal Lung	lung
27	chr20:52531200-52532000	Enhancers	Small Intestine	intestine
28	chr20:52531200-52532200	Flanking Active TSS	Colonic Mucosa	Colon
29	chr20:52531200-52532200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr20:52531200-52532200	Flanking Active TSS	Osteobl	bone
31	chr20:52531200-52532400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:52531200-52532400	Flanking Active TSS	NHEK	skin
33	chr20:52531400-52532000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:52531400-52532000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr20:52531400-52532000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr20:52531400-52532200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:52531400-52532200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr20:52531400-52532200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:52531400-52532200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr20:52531400-52532200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr20:52531400-52532200	Flanking Active TSS	Dnd41	blood
42	chr20:52531400-52532400	Active TSS	Aorta	Aorta
43	chr20:52531400-52532400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr20:52531400-52532600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr20:52531400-52532600	Active TSS	Right Atrium	heart
46	chr20:52531400-52533000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr20:52531400-52533000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr20:52531400-52533000	Flanking Active TSS	HSMM	muscle
49	chr20:52531600-52532000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr20:52531600-52532000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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