Variant report

Variant	nsv526318
Chromosome Location	chr5:118210835-118221589
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	chr5:118140828..118142755-chr5:118221049..118222690,2	K562	blood:

Extended variants
information (count: 482 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6870923	chr5:118210835-118210836	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11949048	chr5:118210849-118210850	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145173567	chr5:118210850-118210851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540560290	chr5:118210886-118210887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560461595	chr5:118210905-118210906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529123772	chr5:118210907-118210908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112100155	chr5:118210923-118210924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368181177	chr5:118210925-118210926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189475251	chr5:118210928-118210929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149866462	chr5:118210995-118210996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531074816	chr5:118210997-118210998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76682296	chr5:118211027-118211028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75162611	chr5:118211030-118211031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149147079	chr5:118211085-118211086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568451608	chr5:118211186-118211187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369556002	chr5:118211224-118211225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372766217	chr5:118211226-118211227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80101838	chr5:118211235-118211236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34538282	chr5:118211256-118211257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75749367	chr5:118211258-118211259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374375877	chr5:118211259-118211260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61571929	chr5:118211280-118211281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181527475	chr5:118211301-118211302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551081264	chr5:118211308-118211309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546906915	chr5:118211374-118211375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566793111	chr5:118211376-118211377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535672970	chr5:118211396-118211397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73236957	chr5:118211421-118211422	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569340722	chr5:118211450-118211451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148330096	chr5:118211459-118211460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529154702	chr5:118211476-118211477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375326206	chr5:118211478-118211479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115086564	chr5:118211507-118211508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540200373	chr5:118211517-118211518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554111748	chr5:118211552-118211553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573942904	chr5:118211560-118211561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186399792	chr5:118211608-118211609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368590272	chr5:118211613-118211614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113492799	chr5:118211640-118211641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531385477	chr5:118211645-118211646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114491561	chr5:118211662-118211663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140315465	chr5:118211681-118211682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533175642	chr5:118211753-118211754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77471120	chr5:118211758-118211759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190919396	chr5:118211779-118211780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182306511	chr5:118211804-118211805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574715346	chr5:118211810-118211811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543079195	chr5:118211823-118211824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529630382	chr5:118211837-118211838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145459937	chr5:118211897-118211898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118206400-118211200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:118209800-118218000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:118210000-118211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118210800-118212000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr5:118214600-118216000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr5:118215000-118216000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:118216000-118224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:118216600-118244800	Weak transcription	Primary T cells from cord blood	blood
9	chr5:118217000-118217600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:118217200-118219200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:118217200-118219400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:118217200-118220000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:118217400-118217600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:118217400-118218800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr5:118217400-118219400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:118217600-118218600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:118217800-118218400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:118218000-118218600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:118218000-118218600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:118218000-118218800	Enhancers	Brain Hippocampus Middle	brain
21	chr5:118218000-118219000	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:118218000-118219200	Enhancers	Brain Anterior Caudate	brain
23	chr5:118218000-118219200	Enhancers	Brain Substantia Nigra	brain
24	chr5:118218000-118219400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:118218000-118219400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:118218000-118219400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:118218200-118218800	Enhancers	Brain Germinal Matrix	brain
28	chr5:118218200-118219400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:118218400-118218600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:118218400-118219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:118218400-118220000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:118218600-118219000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:118218600-118219400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:118218800-118219400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:118218800-118220000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:118218800-118240600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:118219000-118219600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:118219000-118219800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:118219200-118219400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:118219200-118227200	Weak transcription	Brain Anterior Caudate	brain
41	chr5:118219400-118227200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:118220000-118226800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links