Variant report

Variant	esv3377354
Chromosome Location	chr5:49469795-49518993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5151 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:5151 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566590763	chr5:49469801-49469802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199606850	chr5:49469841-49469842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558369233	chr5:49469857-49469858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575106749	chr5:49469866-49469867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200812527	chr5:49469877-49469878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375822306	chr5:49469907-49469908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201548313	chr5:49469911-49469912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537602461	chr5:49469934-49469935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115089716	chr5:49469936-49469937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571346175	chr5:49469949-49469950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543040670	chr5:49469957-49469958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191853112	chr5:49469965-49469966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183616269	chr5:49469975-49469976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545529702	chr5:49469988-49469989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565334605	chr5:49470003-49470004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188263450	chr5:49470005-49470006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181830875	chr5:49470018-49470019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561659722	chr5:49470026-49470027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530308480	chr5:49470027-49470028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538641328	chr5:49470028-49470029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138076166	chr5:49470029-49470030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187044302	chr5:49470030-49470031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190722809	chr5:49470031-49470032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73097808	chr5:49470034-49470035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551858214	chr5:49470045-49470046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568583493	chr5:49470048-49470049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146079858	chr5:49470054-49470055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181473732	chr5:49470068-49470069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373655202	chr5:49470072-49470073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574845131	chr5:49470073-49470074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2353222	chr5:49470083-49470084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs187001180	chr5:49470087-49470088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190200784	chr5:49470089-49470090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553996373	chr5:49470090-49470091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138809642	chr5:49470096-49470097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78033527	chr5:49470097-49470098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545396291	chr5:49470103-49470104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149341016	chr5:49470124-49470125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182833442	chr5:49470155-49470156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144696465	chr5:49470162-49470163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553966357	chr5:49470175-49470176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76487842	chr5:49470178-49470179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200047354	chr5:49470190-49470191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561322288	chr5:49470194-49470195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530466111	chr5:49470200-49470201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs185216150	chr5:49470201-49470202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540579517	chr5:49470205-49470206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577203119	chr5:49470206-49470207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560791613	chr5:49470208-49470209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532001093	chr5:49470220-49470221	Weak transcription 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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49469400-49473000	Weak transcription	HUVEC	blood vessel
2	chr5:49470200-49471000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:49470600-49473000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:49471000-49476800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr5:49471000-49486200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr5:49471800-49473000	ZNF genes & repeats	HepG2	liver
9	chr5:49473000-49473400	ZNF genes & repeats	HUVEC	blood vessel
10	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr5:49475400-49478200	ZNF genes & repeats	Dnd41	blood
12	chr5:49476400-49476600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr5:49477000-49482400	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr5:49478200-49479600	Enhancers	Dnd41	blood
15	chr5:49481000-49481400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:49481200-49486200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr5:49481400-49482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:49482200-49482600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:49482200-49482600	ZNF genes & repeats	HUVEC	blood vessel
20	chr5:49482200-49482600	ZNF genes & repeats	NH-A	brain
21	chr5:49483600-49485200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr5:49484200-49485200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr5:49484600-49485000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:49484600-49485000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:49484600-49485000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:49484600-49485000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:49484600-49485000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr5:49484600-49485000	ZNF genes & repeats	Fetal Heart	heart
29	chr5:49484800-49485000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:49484800-49485000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr5:49484800-49485000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:49484800-49485000	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr5:49484800-49485000	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr5:49484800-49485000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr5:49484800-49485000	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr5:49484800-49485000	ZNF genes & repeats	NH-A	brain
40	chr5:49485000-49488400	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:49486600-49491000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr5:49487400-49497600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr5:49488400-49488600	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr5:49488400-49488800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
45	chr5:49488400-49488800	Active TSS	Aorta	Aorta
46	chr5:49488400-49488800	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr5:49488400-49489000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr5:49490200-49514600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr5:49492200-49492600	ZNF genes & repeats	HUVEC	blood vessel
50	chr5:49492400-49493000	Weak transcription	NH-A	brain

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