Variant report

Variant	nsv962543
Chromosome Location	chr20:24037279-24044544
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	chr20:19198505..19201167-chr20:24035131..24037603,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGTLC1-7	chr20:24040361-24040525	l_2094_chr20:24022958-24040525_kidney

Extended variants
information (count: 338 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80018354	chr20:24037289-24037290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544373590	chr20:24037305-24037306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188813048	chr20:24037325-24037326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192665910	chr20:24037369-24037370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562681399	chr20:24037397-24037398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183228505	chr20:24037403-24037404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546271989	chr20:24037429-24037430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562990245	chr20:24037444-24037445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113858395	chr20:24037462-24037463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77941580	chr20:24037473-24037474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74687450	chr20:24037481-24037482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531779421	chr20:24037484-24037485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187477549	chr20:24037485-24037486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562175469	chr20:24037525-24037526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527984937	chr20:24037528-24037529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149735711	chr20:24037557-24037558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35179494	chr20:24037558-24037559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386813455	chr20:24037560-24037561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550863482	chr20:24037564-24037565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563699444	chr20:24037568-24037569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6114443	chr20:24037583-24037584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146866567	chr20:24037584-24037585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189665303	chr20:24037587-24037588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6114444	chr20:24037591-24037592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111542509	chr20:24037592-24037593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375802797	chr20:24037596-24037597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192359988	chr20:24037617-24037618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149004932	chr20:24037649-24037650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565775349	chr20:24037656-24037657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534871445	chr20:24037667-24037668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558084695	chr20:24037671-24037672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577279657	chr20:24037676-24037677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539858862	chr20:24037731-24037732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556630390	chr20:24037746-24037747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375711542	chr20:24037749-24037750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374382921	chr20:24037764-24037765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56005260	chr20:24037770-24037771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116775641	chr20:24037787-24037788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572562448	chr20:24037801-24037802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376173575	chr20:24037809-24037810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541281838	chr20:24037819-24037820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1797027	chr20:24037872-24037873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533479625	chr20:24037892-24037893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6114445	chr20:24037934-24037935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563184109	chr20:24037983-24037984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528973720	chr20:24038040-24038041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548812268	chr20:24038066-24038067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569512166	chr20:24038102-24038103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76877754	chr20:24038123-24038124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551664922	chr20:24038163-24038164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Prostate cancer	18632612	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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24033800-24041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24036600-24038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:24038000-24041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:24039800-24040400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr20:24039800-24040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:24039800-24040400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:24040000-24040400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr20:24040000-24040600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr20:24040000-24040600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:24040200-24040400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr20:24040200-24040600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr20:24040400-24042000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr20:24040600-24041600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr20:24040600-24041600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:24040600-24041800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr20:24041400-24041600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr20:24041400-24041800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:24041400-24041800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:24041600-24041800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:24041600-24041800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr20:24041600-24041800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr20:24041600-24041800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr20:24041600-24042000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:24041600-24042000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:24041600-24042000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:24041600-24042200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:24041600-24042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:24041800-24042800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr20:24041800-24046800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr20:24042000-24042200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr20:24042000-24042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr20:24042000-24043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:24042800-24043400	Enhancers	Primary hematopoietic stem cells	blood
34	chr20:24042800-24043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:24042800-24043600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr20:24043200-24043600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr20:24043400-24045800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr20:24043400-24046200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr20:24043400-24046200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:24043400-24046600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr20:24043600-24046400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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