Variant report

Variant	nsv980990
Chromosome Location	chr5:100183442-100190408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100187668..100190190-chr5:100190255..100193150,3	MCF-7	breast:
2	chr5:100185049..100186572-chr5:100203606..100206571,2	K562	blood:
3	chr5:100187668..100190190-chr5:100190255..100193150,3	MCF-7	breast:

Extended variants
information (count: 260 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536084038	chr5:100183447-100183448	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs529612697	chr5:100183476-100183477	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549748450	chr5:100183477-100183478	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2544914	chr5:100183514-100183515	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531378502	chr5:100183538-100183539	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs543049197	chr5:100183539-100183540	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192495527	chr5:100183553-100183554	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs13358325	chr5:100183559-100183560	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73775449	chr5:100183563-100183564	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185053115	chr5:100183611-100183612	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114455330	chr5:100183638-100183639	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550397506	chr5:100183655-100183656	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138496617	chr5:100183662-100183663	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140663402	chr5:100183714-100183715	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527792904	chr5:100183726-100183727	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200310306	chr5:100183745-100183746	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115369874	chr5:100183765-100183766	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546416044	chr5:100183794-100183795	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570845651	chr5:100183835-100183836	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538282691	chr5:100183884-100183885	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556260299	chr5:100183949-100183950	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2725116	chr5:100183954-100183955	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs370695278	chr5:100183961-100183962	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371315113	chr5:100184004-100184005	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566420686	chr5:100184106-100184107	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111972444	chr5:100184135-100184136	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572259463	chr5:100184149-100184150	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538257843	chr5:100184187-100184188	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201296977	chr5:100184188-100184189	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs199603747	chr5:100184190-100184191	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546791185	chr5:100184217-100184218	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566306680	chr5:100184221-100184222	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543439008	chr5:100184348-100184349	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561489488	chr5:100184355-100184356	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529207681	chr5:100184383-100184384	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541278189	chr5:100184389-100184390	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs554721643	chr5:100184450-100184451	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559594583	chr5:100184456-100184457	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374514671	chr5:100184462-100184463	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190289061	chr5:100184469-100184470	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564634071	chr5:100184507-100184508	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540713693	chr5:100184572-100184573	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34131128	chr5:100184605-100184606	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs55849330	chr5:100184647-100184648	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs550166318	chr5:100184695-100184696	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568336143	chr5:100184713-100184714	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535750497	chr5:100184768-100184769	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547724142	chr5:100184804-100184805	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115871579	chr5:100184835-100184836	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573398595	chr5:100184892-100184893	Strong transcription Weak transcription 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:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100174000-100190600	Weak transcription	Fetal Lung	lung
3	chr5:100177400-100188400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:100177600-100185800	Strong transcription	Dnd41	blood
5	chr5:100177600-100215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:100177800-100188200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:100177800-100188400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:100177800-100188800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:100178200-100183800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:100178200-100218400	Weak transcription	Placenta	Placenta
11	chr5:100178400-100185400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:100178400-100188400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:100179200-100188000	ZNF genes & repeats	GM12878-XiMat	blood
14	chr5:100180800-100185200	Weak transcription	Fetal Thymus	thymus
15	chr5:100180800-100188000	Weak transcription	Primary T cells from cord blood	blood
16	chr5:100180800-100188200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:100181600-100183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:100182000-100183600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:100182000-100187800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:100182400-100187400	Weak transcription	Primary B cells from cord blood	blood
21	chr5:100182600-100185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:100182600-100187800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:100182800-100183600	Enhancers	NHDF-Ad	bronchial
24	chr5:100183000-100183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:100183000-100184000	Enhancers	HUVEC	blood vessel
26	chr5:100183000-100184800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:100183000-100187800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:100183200-100183600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:100183200-100184800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:100183200-100185200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:100183200-100187400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:100183200-100187800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:100183400-100184800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:100183600-100184800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:100183600-100184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:100183600-100187200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:100183600-100187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:100183800-100184000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:100184000-100184600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:100184000-100188600	Weak transcription	HUVEC	blood vessel
41	chr5:100184600-100185800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:100184800-100185000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:100184800-100185400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:100184800-100185600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:100184800-100185600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:100184800-100185800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:100185000-100185200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:100185200-100185400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:100185200-100185400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:100185200-100185600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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