Variant report

Variant	nsv1064197
Chromosome Location	chr20:16575463-16587230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16577829..16580516-chr20:16584380..16586339,2	MCF-7	breast:
2	chr20:16577829..16580516-chr20:16584380..16586339,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF16B-6	chr20:16585193-16585738	NONHSAT078737

Extended variants
information (count: 475 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376412821	chr20:16575803-16575804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189277855	chr20:16575813-16575814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562754503	chr20:16575857-16575858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529740962	chr20:16575881-16575882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574130148	chr20:16575899-16575900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76585058	chr20:16575907-16575908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2207205	chr20:16575942-16575943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs180960516	chr20:16575966-16575967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540424971	chr20:16575984-16575985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2328046	chr20:16576079-16576080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376199194	chr20:16576101-16576102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76651389	chr20:16576119-16576120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2328047	chr20:16576128-16576129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs374488399	chr20:16576133-16576134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538041361	chr20:16576140-16576141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55755914	chr20:16576146-16576147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556474903	chr20:16576155-16576156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552223476	chr20:16576159-16576160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34634696	chr20:16576198-16576199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574772637	chr20:16576211-16576212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142576418	chr20:16576219-16576220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376518530	chr20:16576271-16576272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183860058	chr20:16576279-16576280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538588598	chr20:16576318-16576319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199643943	chr20:16576328-16576329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199762734	chr20:16576329-16576330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7509008	chr20:16576330-16576331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7509457	chr20:16576339-16576340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546025201	chr20:16576340-16576341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7509009	chr20:16576341-16576342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562853776	chr20:16576346-16576347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188486092	chr20:16576350-16576351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544396418	chr20:16576363-16576364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562791023	chr20:16576371-16576372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574915360	chr20:16576374-16576375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548177576	chr20:16576400-16576401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114412448	chr20:16576446-16576447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527275921	chr20:16576604-16576605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552027920	chr20:16576651-16576652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570198359	chr20:16576758-16576759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538078565	chr20:16576789-16576790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554251748	chr20:16576791-16576792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76287964	chr20:16576836-16576837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111709983	chr20:16576844-16576845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139987117	chr20:16576845-16576846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181283959	chr20:16576856-16576857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540301952	chr20:16576862-16576863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572386535	chr20:16576865-16576866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539803451	chr20:16576877-16576878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75698379	chr20:16576922-16576923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16575800-16576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:16576000-16577000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:16576800-16578800	Enhancers	Fetal Brain Male	brain
4	chr20:16577000-16577200	Enhancers	Hela-S3	cervix
5	chr20:16577000-16577400	Bivalent Enhancer	A549	lung
6	chr20:16577000-16578800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:16578800-16580600	Weak transcription	Fetal Brain Male	brain
8	chr20:16580400-16582800	Enhancers	Fetal Lung	lung
9	chr20:16580600-16584200	Enhancers	Fetal Brain Male	brain
10	chr20:16581600-16582200	Enhancers	Stomach Smooth Muscle	stomach
11	chr20:16581800-16582200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:16581800-16582200	Enhancers	Adipose Nuclei	Adipose
13	chr20:16581800-16582200	Enhancers	Ovary	ovary
14	chr20:16581800-16582400	Enhancers	Fetal Stomach	stomach
15	chr20:16581800-16582600	Enhancers	Fetal Brain Female	brain
16	chr20:16581800-16582600	Enhancers	Fetal Muscle Leg	muscle
17	chr20:16582000-16582600	Enhancers	Brain Angular Gyrus	brain
18	chr20:16582200-16587400	Weak transcription	Adipose Nuclei	Adipose
19	chr20:16582600-16587800	Weak transcription	Fetal Brain Female	brain
20	chr20:16582600-16588000	Weak transcription	Fetal Muscle Leg	muscle
21	chr20:16582800-16586200	Weak transcription	Fetal Lung	lung
22	chr20:16584200-16587400	Weak transcription	Fetal Brain Male	brain
23	chr20:16586200-16586600	Enhancers	Fetal Lung	lung
24	chr20:16586600-16587800	Weak transcription	Fetal Lung	lung
25	chr20:16587000-16587600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr20:16587000-16588600	Enhancers	Fetal Intestine Small	intestine
27	chr20:16587000-16593200	Enhancers	Fetal Intestine Large	intestine
28	chr20:16587200-16587400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:16587200-16588000	Enhancers	Sigmoid Colon	Sigmoid Colon

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