Variant report

Variant	nsv1059778
Chromosome Location	chr20:15999519-16165895
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:16033600..16035474-chr20:16035827..16038572,2	MCF-7	breast:
2	chr20:16160448..16162621-chr20:16169095..16171289,2	MCF-7	breast:
3	chr20:16033600..16035474-chr20:16035827..16038572,2	MCF-7	breast:
4	chr20:16153006..16155321-chr20:16155376..16157028,2	MCF-7	breast:
5	chr20:16124932..16127286-chr20:16130135..16132956,2	MCF-7	breast:
6	chr20:16124932..16127286-chr20:16130135..16132956,2	MCF-7	breast:
7	chr12:9400389..9401174-chr20:16008735..16009312,2	MCF-7	breast:
8	chr20:16164797..16166752-chr20:16188820..16190888,2	K562	blood:
9	chr20:16153006..16155321-chr20:16155376..16157028,2	MCF-7	breast:
10	chr20:16154110..16157064-chr20:16158082..16160650,2	K562	blood:
11	chr20:16154110..16157064-chr20:16158082..16160650,2	K562	blood:
12	chr20:13439916..13441792-chr20:16089187..16092012,2	K562	blood:
13	chr20:15994327..15996069-chr20:16007879..16009876,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF16B-2	chr20:16091244-16091298	XLOC_013660
2	lnc-KIF16B-2	chr20:16089732-16089934	XLOC_013660

No data

Extended variants
information (count: 5893 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:5893 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568395009	chr20:15999567-15999568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114196389	chr20:15999588-15999589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554070842	chr20:15999650-15999651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6135641	chr20:15999666-15999667	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs539570719	chr20:15999699-15999700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571767540	chr20:15999726-15999727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557978251	chr20:15999728-15999729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576470841	chr20:15999729-15999730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543498366	chr20:15999737-15999738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555319467	chr20:15999822-15999823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538476408	chr20:15999825-15999826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75572564	chr20:15999831-15999832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114330134	chr20:15999853-15999854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559572145	chr20:15999891-15999892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574744720	chr20:15999921-15999922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545575405	chr20:15999928-15999929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564075039	chr20:15999945-15999946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77815126	chr20:15999953-15999954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117776354	chr20:15999954-15999955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117068426	chr20:15999969-15999970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528863468	chr20:16000014-16000015	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547715163	chr20:16000015-16000016	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565937676	chr20:16000046-16000047	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35446222	chr20:16000061-16000062	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539293637	chr20:16000101-16000102	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6131764	chr20:16000103-16000104	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570079254	chr20:16000113-16000114	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190650750	chr20:16000114-16000115	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555413510	chr20:16000120-16000121	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573702557	chr20:16000143-16000144	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540987486	chr20:16000183-16000184	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553294727	chr20:16000186-16000187	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552432243	chr20:16000226-16000227	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17644136	chr20:16000249-16000250	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs531605496	chr20:16000251-16000252	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6080098	chr20:16000293-16000294	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141312768	chr20:16000307-16000308	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6034350	chr20:16000326-16000327	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150218357	chr20:16000361-16000362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182342922	chr20:16000401-16000402	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561717128	chr20:16000459-16000460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528904214	chr20:16000460-16000461	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138612016	chr20:16000471-16000472	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559730363	chr20:16000484-16000485	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533233357	chr20:16000485-16000486	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551320887	chr20:16000546-16000547	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569846968	chr20:16000586-16000587	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13038575	chr20:16000601-16000602	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201593529	chr20:16000667-16000668	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568005692	chr20:16000775-16000776	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:724 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15979000-16004200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:15997000-16002400	Strong transcription	Primary B cells from cord blood	blood
3	chr20:15998000-16002400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:15998400-16012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:15998600-16002400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:15998800-16000000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:15999200-16002400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:15999400-15999800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:15999400-16002400	Enhancers	HSMM	muscle
10	chr20:15999800-16000200	Enhancers	HSMMtube	muscle
11	chr20:15999800-16002200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr20:16000000-16000200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:16000000-16002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:16000000-16002400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:16000200-16001200	Weak transcription	HSMMtube	muscle
16	chr20:16000200-16001400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:16000200-16002400	Enhancers	HMEC	breast
18	chr20:16001000-16002200	Enhancers	NH-A	brain
19	chr20:16001200-16001400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr20:16001200-16002200	Enhancers	NHEK	skin
21	chr20:16001200-16002400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:16001200-16002400	Enhancers	HSMMtube	muscle
23	chr20:16001400-16002400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:16002000-16002200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr20:16002200-16005800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:16002400-16003000	Weak transcription	Primary B cells from cord blood	blood
27	chr20:16002400-16004400	Weak transcription	HSMMtube	muscle
28	chr20:16002400-16004600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr20:16002400-16005000	Weak transcription	HSMM	muscle
30	chr20:16003000-16003600	Strong transcription	Primary B cells from cord blood	blood
31	chr20:16003400-16003600	Enhancers	Fetal Brain Female	brain
32	chr20:16003600-16004400	Weak transcription	Primary B cells from cord blood	blood
33	chr20:16003600-16007800	Weak transcription	Fetal Brain Female	brain
34	chr20:16004200-16006000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:16004200-16006200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr20:16004200-16008800	Enhancers	Primary B cells from peripheral blood	blood
37	chr20:16004400-16004600	Enhancers	Brain Germinal Matrix	brain
38	chr20:16004400-16004800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr20:16004400-16005000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:16004400-16005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr20:16004400-16006200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:16004400-16006200	Enhancers	Primary B cells from cord blood	blood
43	chr20:16004400-16006400	Enhancers	HSMMtube	muscle
44	chr20:16004600-16005200	Enhancers	Primary hematopoietic stem cells	blood
45	chr20:16004600-16005400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr20:16004600-16006400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:16004600-16006400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:16004600-16007200	Weak transcription	Brain Germinal Matrix	brain
49	chr20:16004800-16005200	Enhancers	Stomach Mucosa	stomach
50	chr20:16004800-16006400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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