Variant report

Variant	nsv969238
Chromosome Location	chr5:100174140-100182830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 261 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:261 , 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	rs188026827	chr5:100174163-100174164	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs527410208	chr5:100174198-100174199	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575663408	chr5:100174214-100174215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76232385	chr5:100174235-100174236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145103055	chr5:100174259-100174260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190550624	chr5:100174322-100174323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200850494	chr5:100174351-100174352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4703126	chr5:100174427-100174428	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs535724701	chr5:100174454-100174455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547290655	chr5:100174494-100174495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564144878	chr5:100174633-100174634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147592639	chr5:100174682-100174683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546583380	chr5:100174707-100174708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534292078	chr5:100174725-100174726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs67138278	chr5:100174738-100174739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397998845	chr5:100174741-100174742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79919359	chr5:100174814-100174815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374923557	chr5:100174820-100174821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183192800	chr5:100174851-100174852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142521253	chr5:100174884-100174885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187940244	chr5:100174894-100174895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72778613	chr5:100174987-100174988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542474079	chr5:100175001-100175002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374981794	chr5:100175048-100175049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544391806	chr5:100175057-100175058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572551641	chr5:100175059-100175060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545502599	chr5:100175133-100175134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563886834	chr5:100175166-100175167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531286026	chr5:100175189-100175190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550587661	chr5:100175219-100175220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192933556	chr5:100175223-100175224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369448980	chr5:100175269-100175270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72778615	chr5:100175315-100175316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547625950	chr5:100175332-100175333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565748774	chr5:100175361-100175362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539687122	chr5:100175378-100175379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561426621	chr5:100175389-100175390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116078721	chr5:100175435-100175436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538324110	chr5:100175463-100175464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556296869	chr5:100175541-100175542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535949891	chr5:100175553-100175554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368558874	chr5:100175567-100175568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574747317	chr5:100175576-100175577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535776464	chr5:100175623-100175624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35290622	chr5:100175657-100175658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554403452	chr5:100175714-100175715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182365382	chr5:100175727-100175728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572396010	chr5:100175746-100175747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546016772	chr5:100175747-100175748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373066939	chr5:100175784-100175785	Weak transcription Enhancers	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:252 , 50 per page) page: 1 2 3 4 5 6

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	chr5:100164200-100174800	Weak transcription	Placenta	Placenta
4	chr5:100164200-100176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:100164400-100175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:100164400-100175800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:100164600-100174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:100164600-100175000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:100165000-100174800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:100165000-100175800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:100165000-100176200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:100165000-100176800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:100165600-100174200	ZNF genes & repeats	GM12878-XiMat	blood
14	chr5:100168800-100176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:100170400-100174200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100170600-100179000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:100172000-100174200	Strong transcription	Primary B cells from cord blood	blood
18	chr5:100172400-100176400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:100172600-100174600	Strong transcription	Dnd41	blood
20	chr5:100173200-100177000	Enhancers	HUVEC	blood vessel
21	chr5:100173400-100174200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:100173400-100174800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:100173600-100174200	Enhancers	Fetal Kidney	kidney
24	chr5:100173600-100176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:100173600-100176600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr5:100173600-100176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:100173600-100176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:100173800-100175000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:100173800-100175800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:100173800-100176200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:100173800-100176200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:100173800-100177000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:100174000-100174200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:100174000-100174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:100174000-100175200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:100174000-100175200	Weak transcription	A549	lung
37	chr5:100174000-100176000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:100174000-100176000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:100174000-100176000	Weak transcription	HMEC	breast
40	chr5:100174000-100176600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:100174000-100190600	Weak transcription	Fetal Lung	lung
42	chr5:100174200-100174400	Weak transcription	GM12878-XiMat	blood
43	chr5:100174200-100176000	Weak transcription	Primary B cells from cord blood	blood
44	chr5:100174200-100176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:100174200-100177000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:100174200-100179200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:100174400-100176000	Enhancers	GM12878-XiMat	blood
48	chr5:100174400-100177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:100174600-100177600	Weak transcription	Dnd41	blood
50	chr5:100174800-100175400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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