Variant report

Variant	nsv432115
Chromosome Location	chr20:24871385-24915839
allele	n/a
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:24814781..24815580-chr20:24898686..24899395,4	MCF-7	breast:
2	chr20:24887755..24889606-chr20:24897276..24899425,2	K562	blood:
3	chr20:24283582..24284398-chr20:24898678..24899422,2	MCF-7	breast:
4	chr20:24892772..24894924-chr20:24896880..24898878,2	MCF-7	breast:
5	chr20:24909343..24912693-chr20:24913170..24916017,4	MCF-7	breast:
6	chr20:24763298..24765600-chr20:24898179..24900035,23	MCF-7	breast:
7	chr20:24887755..24889606-chr20:24897276..24899425,2	K562	blood:
8	chr20:24892772..24894924-chr20:24896880..24898878,2	MCF-7	breast:
9	chr20:24910467..24912747-chr20:24972358..24974415,2	MCF-7	breast:
10	chr20:24914670..24916704-chr20:24919775..24921335,2	MCF-7	breast:
11	chr20:24764506..24765162-chr20:24897617..24898498,2	MCF-7	breast:
12	chr20:24914439..24915971-chr20:24971852..24973942,2	MCF-7	breast:
13	chr20:24764501..24765530-chr20:24898693..24899347,4	MCF-7	breast:
14	chr20:24771465..24772208-chr20:24898686..24899202,2	MCF-7	breast:
15	chr20:24869298..24871986-chr20:24874096..24876314,2	MCF-7	breast:
16	chr20:24909343..24912693-chr20:24913170..24916017,4	MCF-7	breast:
17	chr20:24912941..24914562-chr20:24924394..24926104,2	MCF-7	breast:
18	chr20:24869298..24871986-chr20:24874096..24876314,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf3-1	chr20:24911284-24912866	ENSG00000250527
2	lnc-C20orf3-1	chr20:24913047-24913619	ENSG00000250527

No data

Variant related genes	Relation type
ENSG00000101474	chromatin interactions
YOD1	miRNA target sites
ZNF148	miRNA target sites

Extended variants
information (count: 1700 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544253601	chr20:24879804-24879805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561056738	chr20:24879811-24879812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530098861	chr20:24879829-24879830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546726438	chr20:24879893-24879894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545864537	chr20:24879898-24879899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577019045	chr20:24879953-24879954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561046740	chr20:24879955-24879956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532730423	chr20:24879994-24879995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552922129	chr20:24880003-24880004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs1411893	chr20:24880042-24880043	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1831483	chr20:24880081-24880082	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186530865	chr20:24880095-24880096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138937248	chr20:24880098-24880099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370811136	chr20:24880145-24880146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553514737	chr20:24880177-24880178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570709593	chr20:24880191-24880192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs1411894	chr20:24880229-24880230	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529109027	chr20:24880240-24880241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556042647	chr20:24880321-24880322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550638616	chr20:24880379-24880380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142843087	chr20:24880398-24880399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs1411895	chr20:24880415-24880416	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs539438226	chr20:24880429-24880430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551318069	chr20:24880441-24880442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs191391273	chr20:24880443-24880444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182318507	chr20:24880458-24880459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185004117	chr20:24880469-24880470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189615557	chr20:24880492-24880493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147048126	chr20:24880503-24880504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534476711	chr20:24880507-24880508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532557669	chr20:24880521-24880522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183284733	chr20:24880528-24880529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144594587	chr20:24880561-24880562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138285768	chr20:24880565-24880566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531929704	chr20:24880568-24880569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548846075	chr20:24880600-24880601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370591175	chr20:24880618-24880619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs568125107	chr20:24880640-24880641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs527428682	chr20:24880645-24880646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574712906	chr20:24880702-24880703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371868189	chr20:24880706-24880707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547485332	chr20:24880709-24880710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570306654	chr20:24880735-24880736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs539056482	chr20:24880763-24880764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs56053259	chr20:24880779-24880780	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1599977	chr20:24880804-24880805	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149597487	chr20:24880834-24880835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201464863	chr20:24880887-24880888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555310566	chr20:24880888-24880889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144274901	chr20:24880895-24880896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24879800-24881400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:24880600-24880800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:24880600-24881200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:24880600-24881200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:24880800-24881000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr20:24881200-24890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:24890200-24891400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:24891000-24891200	Weak transcription	Spleen	Spleen
9	chr20:24891200-24891400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:24891400-24893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:24891800-24892200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr20:24891800-24892600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr20:24891800-24896000	Weak transcription	Spleen	Spleen
14	chr20:24892000-24892800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr20:24892200-24892400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr20:24892200-24892600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:24892600-24898600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr20:24893600-24893800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:24893600-24894000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:24894000-24898400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:24894600-24894800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:24895200-24895600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr20:24895400-24895800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:24895800-24898400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:24896000-24896800	Active TSS	Spleen	Spleen
26	chr20:24898000-24899600	Enhancers	Brain Hippocampus Middle	brain
27	chr20:24898400-24899800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:24898400-24900600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:24898600-24898800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr20:24898600-24898800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr20:24898600-24898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr20:24898600-24898800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr20:24898600-24899000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:24898600-24899000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr20:24898600-24899200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr20:24898600-24899600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr20:24898600-24899600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:24898600-24899800	Enhancers	Fetal Lung	lung
39	chr20:24898600-24899800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr20:24898600-24899800	Enhancers	GM12878-XiMat	blood
41	chr20:24898600-24900000	Enhancers	Adipose Nuclei	Adipose
42	chr20:24898600-24901400	Enhancers	Placenta	Placenta
43	chr20:24898800-24899000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr20:24898800-24899000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:24898800-24899000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:24898800-24899000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:24898800-24899000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr20:24898800-24899200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr20:24898800-24899200	Enhancers	Primary B cells from peripheral blood	blood
50	chr20:24898800-24899200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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