Variant report

Variant	nsv980989
Chromosome Location	chr5:100167328-100171481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558850265	chr5:100167394-100167395	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527832659	chr5:100167431-100167432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139320416	chr5:100167435-100167436	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs570826455	chr5:100167451-100167452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181029362	chr5:100167457-100167458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531286121	chr5:100167463-100167464	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143371217	chr5:100167505-100167506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs72778607	chr5:100167508-100167509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535385818	chr5:100167520-100167521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553736522	chr5:100167534-100167535	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146737572	chr5:100167570-100167571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539297367	chr5:100167591-100167592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139311701	chr5:100167608-100167609	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73159945	chr5:100167621-100167622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377258409	chr5:100167629-100167630	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553323119	chr5:100167648-100167649	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571290485	chr5:100167761-100167762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144123617	chr5:100167789-100167790	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185463069	chr5:100167809-100167810	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574857087	chr5:100167819-100167820	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs542540494	chr5:100167840-100167841	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2548277	chr5:100167850-100167851	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190817977	chr5:100167888-100167889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181697553	chr5:100167895-100167896	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs17780091	chr5:100167965-100167966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs531322680	chr5:100167968-100167969	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185909516	chr5:100167994-100167995	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs116271831	chr5:100168051-100168052	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76678241	chr5:100168058-100168059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2548276	chr5:100168066-100168067	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs547361101	chr5:100168072-100168073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528770913	chr5:100168078-100168079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113823583	chr5:100168088-100168089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189923901	chr5:100168200-100168201	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539700055	chr5:100168268-100168269	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557700915	chr5:100168306-100168307	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569831566	chr5:100168316-100168317	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs145110580	chr5:100168324-100168325	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556648414	chr5:100168386-100168387	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574892055	chr5:100168417-100168418	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535519534	chr5:100168437-100168438	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181269622	chr5:100168478-100168479	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369262305	chr5:100168496-100168497	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540701878	chr5:100168506-100168507	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs17780121	chr5:100168512-100168513	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs572676349	chr5:100168529-100168530	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs10060491	chr5:100168530-100168531	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564364629	chr5:100168566-100168567	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184954368	chr5:100168573-100168574	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543123847	chr5:100168580-100168581	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100147800-100179000	Weak transcription	Fetal Thymus	thymus
3	chr5:100148600-100173200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:100159800-100170800	Strong transcription	Dnd41	blood
5	chr5:100164000-100173800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:100164200-100171800	Weak transcription	Fetal Stomach	stomach
7	chr5:100164200-100174800	Weak transcription	Placenta	Placenta
8	chr5:100164200-100176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:100164400-100170200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:100164400-100173600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:100164400-100175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:100164400-100175800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:100164600-100168400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:100164600-100174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:100164600-100175000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:100164800-100168000	Weak transcription	Small Intestine	intestine
17	chr5:100164800-100169400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:100164800-100170200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:100164800-100170400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:100165000-100168200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:100165000-100168200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:100165000-100168400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:100165000-100168400	Weak transcription	NHEK	skin
24	chr5:100165000-100168600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:100165000-100168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:100165000-100173600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:100165000-100173600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:100165000-100174800	Weak transcription	Primary T cells from cord blood	blood
29	chr5:100165000-100175800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:100165000-100176200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:100165000-100176800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:100165200-100168200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:100165200-100168400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:100165600-100174200	ZNF genes & repeats	GM12878-XiMat	blood
35	chr5:100165800-100167400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:100166400-100170400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:100167200-100168600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:100167400-100168200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:100168200-100168800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:100168200-100169000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:100168200-100169600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr5:100168200-100172400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:100168400-100168800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:100168400-100169000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:100168400-100169200	Enhancers	NHEK	skin
46	chr5:100168400-100170600	Strong transcription	Primary B cells from cord blood	blood
47	chr5:100168600-100168800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:100168600-100169000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:100168600-100171200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:100168600-100171800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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