Variant report

Variant	esv3338238
Chromosome Location	chr5:177847046-177848194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577264954	chr5:177847077-177847078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544332925	chr5:177847155-177847156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56393344	chr5:177847156-177847157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530009484	chr5:177847161-177847162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73336637	chr5:177847175-177847176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560392342	chr5:177847181-177847182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371786400	chr5:177847189-177847190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528013891	chr5:177847251-177847252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538692608	chr5:177847284-177847285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185086607	chr5:177847305-177847306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552345434	chr5:177847358-177847359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571749679	chr5:177847388-177847389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533322961	chr5:177847389-177847390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571007124	chr5:177847394-177847395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201439359	chr5:177847430-177847431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376704106	chr5:177847431-177847432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531939502	chr5:177847435-177847436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56236185	chr5:177847436-177847437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568167373	chr5:177847524-177847525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535417629	chr5:177847581-177847582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190731851	chr5:177847584-177847585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12521508	chr5:177847604-177847605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12523141	chr5:177847606-177847607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184063484	chr5:177847616-177847617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200751143	chr5:177847648-177847649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375019204	chr5:177847662-177847663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56813275	chr5:177847713-177847714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569215190	chr5:177847786-177847787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539788813	chr5:177847791-177847792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17081203	chr5:177847813-177847814	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188647656	chr5:177847842-177847843	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs571888077	chr5:177847881-177847882	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs543618816	chr5:177847955-177847956	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs554883960	chr5:177847965-177847966	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377276530	chr5:177847966-177847967	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs556354396	chr5:177847998-177847999	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs574905753	chr5:177848104-177848105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11956401	chr5:177848109-177848110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:102)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177840000-177855000	Weak transcription	Right Atrium	heart
2	chr5:177841200-177854400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:177842400-177848000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:177844000-177849800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:177844400-177849000	Enhancers	Fetal Thymus	thymus
6	chr5:177844800-177848600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:177844800-177851200	Weak transcription	Fetal Lung	lung
8	chr5:177845200-177847600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:177845600-177849600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:177845800-177849600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:177846000-177847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:177846000-177847800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:177846000-177849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:177846000-177849600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:177846200-177848000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:177846200-177849400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:177846200-177849600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:177846200-177851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:177846400-177848800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:177846400-177849600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177846600-177848000	Enhancers	Fetal Muscle Leg	muscle
22	chr5:177846600-177848800	Weak transcription	Thymus	Thymus
23	chr5:177846600-177849200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:177846600-177849600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:177846600-177856000	Weak transcription	Gastric	stomach
26	chr5:177846800-177847200	Enhancers	Fetal Kidney	kidney
27	chr5:177846800-177847800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:177846800-177848000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:177847000-177847200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:177847000-177847800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:177847000-177848000	Enhancers	Fetal Stomach	stomach
32	chr5:177847000-177849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:177847200-177847600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:177847200-177848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:177847200-177854600	Weak transcription	Fetal Kidney	kidney
36	chr5:177847600-177848000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:177847600-177848400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:177847800-177848000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:177847800-177848000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr5:177847800-177848200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:177847800-177849400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:177847800-177850400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:177848000-177848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:177848000-177848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:177848000-177848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:177848000-177848800	Weak transcription	Fetal Stomach	stomach
47	chr5:177848000-177849800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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