Variant report

Variant	nsv598094
Chromosome Location	chr5:49462228-49499290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3440 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3440 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8188289	chr5:49462228-49462229	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565847036	chr5:49462229-49462230	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182125391	chr5:49462259-49462260	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs34596501	chr5:49462282-49462283	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115441798	chr5:49462286-49462287	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544132469	chr5:49462294-49462295	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs148430488	chr5:49462320-49462321	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530877400	chr5:49462338-49462339	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112166418	chr5:49462340-49462341	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574226804	chr5:49462352-49462353	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542653095	chr5:49462366-49462367	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs199600151	chr5:49462375-49462376	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111762330	chr5:49462407-49462408	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs13167432	chr5:49462415-49462416	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112892246	chr5:49462429-49462430	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111682747	chr5:49462433-49462434	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113172675	chr5:49462441-49462442	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528241198	chr5:49462473-49462474	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs199972095	chr5:49462482-49462483	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545101988	chr5:49462488-49462489	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571816970	chr5:49462520-49462521	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550569374	chr5:49462522-49462523	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371262084	chr5:49462553-49462554	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113842231	chr5:49462568-49462569	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530633485	chr5:49462578-49462579	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs80198891	chr5:49462588-49462589	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112448453	chr5:49462599-49462600	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550723249	chr5:49462623-49462624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77455224	chr5:49462625-49462626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186949110	chr5:49462656-49462657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545533469	chr5:49462659-49462660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563835655	chr5:49462686-49462687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112251963	chr5:49462724-49462725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs192508990	chr5:49462726-49462727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201908887	chr5:49462739-49462740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111699769	chr5:49462746-49462747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543388091	chr5:49462752-49462753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112070154	chr5:49462769-49462770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184162272	chr5:49462777-49462778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs565735693	chr5:49462795-49462796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113897765	chr5:49462863-49462864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374390904	chr5:49462873-49462874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78348629	chr5:49462879-49462880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368011250	chr5:49462881-49462882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76800847	chr5:49462885-49462886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs8188037	chr5:49462899-49462900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs201190382	chr5:49462974-49462975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201846943	chr5:49462975-49462976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113691638	chr5:49462997-49462998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371116448	chr5:49463003-49463004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49458000-49464400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:49458200-49464400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49460200-49464400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr5:49460400-49464200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:49461200-49464400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr5:49461600-49462600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:49463800-49464200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:49463800-49464400	ZNF genes & repeats	Liver	Liver
9	chr5:49463800-49464600	ZNF genes & repeats	HUVEC	blood vessel
10	chr5:49464000-49464200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr5:49464600-49465400	Weak transcription	HUVEC	blood vessel
12	chr5:49469400-49473000	Weak transcription	HUVEC	blood vessel
13	chr5:49470200-49471000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:49470600-49473000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr5:49471000-49476800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr5:49471000-49486200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr5:49471800-49473000	ZNF genes & repeats	HepG2	liver
20	chr5:49473000-49473400	ZNF genes & repeats	HUVEC	blood vessel
21	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:49475400-49478200	ZNF genes & repeats	Dnd41	blood
23	chr5:49476400-49476600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr5:49477000-49482400	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr5:49478200-49479600	Enhancers	Dnd41	blood
26	chr5:49481000-49481400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:49481200-49486200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr5:49481400-49482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:49482200-49482600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:49482200-49482600	ZNF genes & repeats	HUVEC	blood vessel
31	chr5:49482200-49482600	ZNF genes & repeats	NH-A	brain
32	chr5:49483600-49485200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr5:49484200-49485200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr5:49484600-49485000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:49484600-49485000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:49484600-49485000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:49484600-49485000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:49484600-49485000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr5:49484600-49485000	ZNF genes & repeats	Fetal Heart	heart
40	chr5:49484800-49485000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr5:49484800-49485000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:49484800-49485000	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr5:49484800-49485000	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr5:49484800-49485000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr5:49484800-49485000	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr5:49484800-49485000	ZNF genes & repeats	NH-A	brain

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