Variant report

Variant	nsv526954
Chromosome Location	chr20:13995214-14055947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:14050662..14052329-chr20:14946506..14948938,2	MCF-7	breast:
2	chr20:13799322..13800081-chr20:14035980..14036894,2	MCF-7	breast:
3	chr20:14051111..14053111-chr20:14053763..14055640,2	K562	blood:
4	chr20:13800443..13801416-chr20:14035511..14036489,5	MCF-7	breast:
5	chr20:13975188..13977937-chr20:14009061..14011031,2	MCF-7	breast:
6	chr20:14051111..14053111-chr20:14053763..14055640,2	K562	blood:
7	chr20:13800788..13801420-chr20:14035337..14035999,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101251	chromatin interactions
ENSG00000172264	chromatin interactions

Extended variants
information (count: 1503 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10485770	chr20:13995214-13995215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549292031	chr20:13995220-13995221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553919663	chr20:13995255-13995256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569471660	chr20:13995289-13995290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200670041	chr20:13995292-13995293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201451864	chr20:13995293-13995294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537946531	chr20:13995311-13995312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146923182	chr20:13995352-13995353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75091689	chr20:13995390-13995391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77129899	chr20:13995391-13995392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372578962	chr20:13995395-13995396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559331645	chr20:13995460-13995461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371797392	chr20:13995461-13995462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571414540	chr20:13995481-13995482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182908479	chr20:13995514-13995515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533895945	chr20:13995557-13995558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553769695	chr20:13995559-13995560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13038954	chr20:13995568-13995569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542940720	chr20:13995598-13995599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146042436	chr20:13995614-13995615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138643076	chr20:13995631-13995632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61499812	chr20:13995632-13995633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556076055	chr20:13995639-13995640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576234547	chr20:13995657-13995658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113597044	chr20:13995664-13995665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142044495	chr20:13995674-13995675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574600341	chr20:13995694-13995695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377155968	chr20:13995732-13995733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564933999	chr20:13995736-13995737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372207063	chr20:13995889-13995890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143100462	chr20:13995901-13995902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566112309	chr20:13995934-13995935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148139288	chr20:13995948-13995949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369568350	chr20:13995954-13995955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540023881	chr20:13996051-13996052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560897674	chr20:13996066-13996067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141919363	chr20:13996069-13996070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553652492	chr20:13996098-13996099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549693561	chr20:13996135-13996136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150247400	chr20:13996206-13996207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79109867	chr20:13996218-13996219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548510296	chr20:13996224-13996225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374237655	chr20:13996258-13996259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551696817	chr20:13996274-13996275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6105202	chr20:13996292-13996293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372064546	chr20:13996348-13996349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547370722	chr20:13996352-13996353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6110130	chr20:13996395-13996396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536153350	chr20:13996456-13996457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556376419	chr20:13996471-13996472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13977400-13996200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:13994000-13997600	Weak transcription	Brain Anterior Caudate	brain
3	chr20:13996000-13996200	ZNF genes & repeats	Liver	Liver
4	chr20:13998000-14000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:14000800-14001000	Strong transcription	Pancreatic Islets	Pancreatic Islet
6	chr20:14001000-14006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr20:14004600-14009000	Weak transcription	Brain Substantia Nigra	brain
8	chr20:14006600-14019800	Weak transcription	Esophagus	oesophagus
9	chr20:14007400-14007600	Enhancers	Gastric	stomach
10	chr20:14007600-14009200	Weak transcription	Gastric	stomach
11	chr20:14007800-14008200	Weak transcription	Fetal Intestine Small	intestine
12	chr20:14008200-14009200	Strong transcription	Fetal Intestine Small	intestine
13	chr20:14008400-14008800	ZNF genes & repeats	Fetal Stomach	stomach
14	chr20:14008600-14009000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr20:14009000-14009200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:14009200-14009400	Enhancers	Gastric	stomach
17	chr20:14009200-14010800	Weak transcription	Fetal Intestine Small	intestine
18	chr20:14009200-14012400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:14009800-14010000	Enhancers	Fetal Heart	heart
20	chr20:14010200-14011400	Weak transcription	Fetal Heart	heart
21	chr20:14011400-14012000	Enhancers	Fetal Heart	heart
22	chr20:14015600-14016400	Enhancers	A549	lung
23	chr20:14025400-14025600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:14025600-14026400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:14034800-14035200	Enhancers	Ovary	ovary
26	chr20:14035000-14035600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:14035000-14035600	Enhancers	Rectal Smooth Muscle	rectum
28	chr20:14035000-14036000	Enhancers	Colon Smooth Muscle	Colon
29	chr20:14035200-14035600	Enhancers	Stomach Smooth Muscle	stomach
30	chr20:14035400-14035800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:14036400-14037000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr20:14037000-14038000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr20:14038000-14038200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr20:14038200-14038600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr20:14038600-14039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr20:14039800-14040400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr20:14040400-14041000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr20:14041000-14041200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr20:14041200-14043000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr20:14041400-14044200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr20:14042600-14043000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr20:14042600-14043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:14042600-14043400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr20:14042600-14043400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr20:14042800-14043200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr20:14042800-14043600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr20:14042800-14044400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:14043000-14043400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr20:14043000-14046200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr20:14043400-14044000	Enhancers	Muscle Satellite Cultured Cells	--

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