Variant report

Variant	esv1840838
Chromosome Location	chr5:111939614-111944473
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	chr5:111886884..111887988-chr5:111940509..111941323,3	K562	blood:
2	chr5:111938998..111941379-chr5:111945188..111946889,2	MCF-7	breast:

Extended variants
information (count: 198 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13162426	chr5:111939614-111939615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7380750	chr5:111939618-111939619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4957657	chr5:111939637-111939638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557703542	chr5:111939652-111939653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572876471	chr5:111939665-111939666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368003756	chr5:111939673-111939674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13162066	chr5:111939678-111939679	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144648217	chr5:111939689-111939690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370470683	chr5:111939704-111939705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6421846	chr5:111939731-111939732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544396431	chr5:111939743-111939744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144677954	chr5:111939746-111939747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533227706	chr5:111939778-111939779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552625290	chr5:111939787-111939788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148544717	chr5:111939805-111939806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557080098	chr5:111939879-111939880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368396433	chr5:111939885-111939886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575768574	chr5:111939901-111939902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559547668	chr5:111939926-111939927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190599182	chr5:111939927-111939928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552843781	chr5:111939931-111939932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535680750	chr5:111939935-111939936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550747248	chr5:111939942-111939943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183274155	chr5:111939972-111939973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564644551	chr5:111939981-111939982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75822196	chr5:111939998-111939999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368724393	chr5:111940023-111940024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142851490	chr5:111940024-111940025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114044334	chr5:111940041-111940042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562953478	chr5:111940048-111940049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533548058	chr5:111940084-111940085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555464565	chr5:111940087-111940088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573762928	chr5:111940132-111940133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544432286	chr5:111940162-111940163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562644541	chr5:111940205-111940206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151091464	chr5:111940206-111940207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545248098	chr5:111940259-111940260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560177689	chr5:111940390-111940391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528534690	chr5:111940446-111940447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375111746	chr5:111940455-111940456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573507094	chr5:111940469-111940470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577228464	chr5:111940479-111940480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141029923	chr5:111940495-111940496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187728216	chr5:111940504-111940505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540557639	chr5:111940509-111940510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192280752	chr5:111940550-111940551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143918837	chr5:111940586-111940587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552094609	chr5:111940640-111940641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6594640	chr5:111940667-111940668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146887982	chr5:111940697-111940698	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111930800-111940000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:111931400-111940000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:111938800-111941000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:111938800-111941000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:111938800-111941200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:111939000-111941000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:111940000-111940600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:111940000-111941200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:111940000-111941200	Enhancers	Fetal Intestine Large	intestine
10	chr5:111940000-111941400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:111940200-111941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:111940200-111941000	Enhancers	HepG2	liver
13	chr5:111940400-111941000	Enhancers	Liver	Liver
14	chr5:111940400-111941200	Enhancers	Brain Anterior Caudate	brain
15	chr5:111940600-111941000	Enhancers	Brain Hippocampus Middle	brain
16	chr5:111940600-111941000	Enhancers	Brain Substantia Nigra	brain
17	chr5:111941000-111943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:111941000-111952600	Weak transcription	Right Atrium	heart
19	chr5:111941200-111943400	Weak transcription	Fetal Intestine Large	intestine
20	chr5:111941400-111943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:111943200-111945200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:111943400-111945400	Active TSS	Fetal Intestine Large	intestine
23	chr5:111943600-111945400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:111943800-111944200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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