Variant report

Variant	esv3468600
Chromosome Location	chr5:177820046-177825444
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	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:

Extended variants
information (count: 193 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs528326961	chr5:177820052-177820053	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs34286476	chr5:177820092-177820093	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs79585106	chr5:177820097-177820098	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs376423244	chr5:177820105-177820106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs369659680	chr5:177820108-177820109	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs114303370	chr5:177820119-177820120	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs2973739	chr5:177820134-177820135	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs189375410	chr5:177820150-177820151	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs112488639	chr5:177820227-177820228	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs548585940	chr5:177820231-177820232	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs2973740	chr5:177820243-177820244	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549693246	chr5:177820261-177820262	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs141165621	chr5:177820262-177820263	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs201202216	chr5:177820282-177820283	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12658363	chr5:177820299-177820300	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533788598	chr5:177820338-177820339	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs553616368	chr5:177820339-177820340	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs528116787	chr5:177820349-177820350	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs34543664	chr5:177820352-177820353	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs571333570	chr5:177820361-177820362	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538761768	chr5:177820381-177820382	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs181023654	chr5:177820384-177820385	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs575228391	chr5:177820410-177820411	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552049056	chr5:177820422-177820423	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554891979	chr5:177820433-177820434	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs573055225	chr5:177820465-177820466	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150195145	chr5:177820466-177820467	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571512849	chr5:177820487-177820488	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71281051	chr5:177820488-177820489	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs5873611	chr5:177820489-177820490	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs564753519	chr5:177820499-177820500	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs533223947	chr5:177820517-177820518	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369987820	chr5:177820531-177820532	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs2910127	chr5:177820543-177820544	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376882725	chr5:177820570-177820571	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116505347	chr5:177820579-177820580	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs574195411	chr5:177820580-177820581	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs74556201	chr5:177820584-177820585	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567908227	chr5:177820613-177820614	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs111324683	chr5:177820614-177820615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs36102461	chr5:177820653-177820654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs557256505	chr5:177820655-177820656	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs74818777	chr5:177820667-177820668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs75284938	chr5:177820669-177820670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs7726742	chr5:177820670-177820671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4364401	chr5:177820684-177820685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538723775	chr5:177820698-177820699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs550733783	chr5:177820729-177820730	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs149443283	chr5:177820739-177820740	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs370939012	chr5:177820764-177820765	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177809600-177820400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:177811000-177821400	Enhancers	Fetal Thymus	thymus
3	chr5:177811600-177821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:177814400-177824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:177814600-177824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:177817000-177821000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:177817200-177820200	Enhancers	Fetal Stomach	stomach
8	chr5:177817200-177823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:177817400-177821200	Weak transcription	Right Ventricle	heart
10	chr5:177817600-177821000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:177817600-177824000	Weak transcription	Left Ventricle	heart
12	chr5:177817800-177820800	Weak transcription	HSMMtube	muscle
13	chr5:177818600-177822000	Enhancers	Thymus	Thymus
14	chr5:177818800-177822000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:177819200-177820200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:177819400-177820400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:177819400-177820400	Enhancers	Spleen	Spleen
18	chr5:177819600-177820400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:177819600-177821000	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr5:177819800-177820200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:177819800-177820200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:177819800-177820200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr5:177819800-177820400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:177819800-177820400	Enhancers	Fetal Lung	lung
25	chr5:177819800-177824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:177820000-177820200	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr5:177820000-177820400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr5:177820000-177820600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:177820000-177823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:177820200-177820400	Enhancers	Fetal Muscle Trunk	muscle
31	chr5:177820200-177821400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:177820200-177824000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:177820400-177820800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:177820400-177820800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:177820400-177821400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:177820400-177821800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:177820400-177823800	Weak transcription	Fetal Lung	lung
38	chr5:177820400-177824000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:177820400-177824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:177820400-177824000	Weak transcription	Spleen	Spleen
41	chr5:177820600-177821800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:177820800-177821000	Active TSS	Fetal Muscle Trunk	muscle
43	chr5:177820800-177821000	Active TSS	HSMMtube	muscle
44	chr5:177820800-177821800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:177821000-177821200	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr5:177821000-177821400	Enhancers	Lung	lung
47	chr5:177821000-177821600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:177821000-177821600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:177821000-177821800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:177821000-177821800	Bivalent Enhancer	Placenta	Placenta

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