Variant report

Variant	nsv600427
Chromosome Location	chr5:177954516-177968251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66043001..66043501-chr5:177956345..177956885,2	Hela-S3	cervix:
2	chr5:177957278..177960312-chr5:177962305..177965618,3	MCF-7	breast:
3	chr5:177957278..177960312-chr5:177962305..177965618,3	MCF-7	breast:
4	chr5:177893036..177895122-chr5:177964444..177967291,2	K562	blood:

Extended variants
information (count: 639 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2672826	chr5:177954516-177954517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147150271	chr5:177954519-177954520	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140304546	chr5:177954527-177954528	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs529645357	chr5:177954528-177954529	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs548211844	chr5:177954531-177954532	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs566725717	chr5:177954549-177954550	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs144464190	chr5:177954564-177954565	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs376699163	chr5:177954573-177954574	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552428276	chr5:177954591-177954592	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs144629597	chr5:177954614-177954615	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs539176330	chr5:177954635-177954636	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs116503160	chr5:177954663-177954664	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs551009840	chr5:177954707-177954708	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs561575594	chr5:177954710-177954711	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530305352	chr5:177954746-177954747	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs569158770	chr5:177954782-177954783	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376002118	chr5:177954793-177954794	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs74881466	chr5:177954798-177954799	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs536619054	chr5:177954801-177954802	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs192055072	chr5:177954802-177954803	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573231119	chr5:177954838-177954839	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs371317298	chr5:177954843-177954844	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs534220703	chr5:177954857-177954858	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs7715224	chr5:177954861-177954862	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114690619	chr5:177954927-177954928	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs185357816	chr5:177954970-177954971	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs189514685	chr5:177955051-177955052	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs562576133	chr5:177955058-177955059	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs574365619	chr5:177955074-177955075	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs541843307	chr5:177955080-177955081	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs559870906	chr5:177955084-177955085	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs527631936	chr5:177955087-177955088	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs181520986	chr5:177955109-177955110	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs185932657	chr5:177955124-177955125	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs148446225	chr5:177955126-177955127	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs60044727	chr5:177955161-177955162	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs117009513	chr5:177955194-177955195	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs569298296	chr5:177955217-177955218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536329185	chr5:177955257-177955258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs627976	chr5:177955264-177955265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566521740	chr5:177955265-177955266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534233199	chr5:177955269-177955270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558779132	chr5:177955292-177955293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377765326	chr5:177955303-177955304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571142671	chr5:177955333-177955334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2036223	chr5:177955337-177955338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2036222	chr5:177955373-177955374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538402626	chr5:177955423-177955424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556465740	chr5:177955484-177955485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151056939	chr5:177955526-177955527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177952800-177955200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:177952800-177956400	Enhancers	Left Ventricle	heart
3	chr5:177953000-177954800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:177953000-177954800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:177953000-177954800	Enhancers	Right Atrium	heart
6	chr5:177953000-177955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177953000-177956000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:177953000-177956800	Enhancers	Right Ventricle	heart
9	chr5:177953200-177954600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:177953200-177954600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:177953200-177954600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:177953200-177954600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:177953200-177955000	Enhancers	Fetal Heart	heart
14	chr5:177953200-177955400	Enhancers	Fetal Stomach	stomach
15	chr5:177953200-177955800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:177953400-177954600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:177953600-177954600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:177953600-177955000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:177953800-177954600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:177953800-177954800	Enhancers	Psoas Muscle	Psoas
21	chr5:177953800-177955200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:177953800-177955200	Enhancers	Fetal Muscle Leg	muscle
23	chr5:177953800-177956200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:177954000-177955200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr5:177954000-177955400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:177954000-177955400	Enhancers	Fetal Brain Male	brain
27	chr5:177954000-177955600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:177954200-177954800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:177954200-177956200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:177954400-177954800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:177954400-177959600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:177954600-177954800	Enhancers	Esophagus	oesophagus
33	chr5:177954600-177954800	Enhancers	Fetal Thymus	thymus
34	chr5:177954600-177954800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:177954600-177955000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:177954600-177955200	Enhancers	Fetal Brain Female	brain
37	chr5:177954600-177955200	Enhancers	Stomach Smooth Muscle	stomach
38	chr5:177954600-177955200	Enhancers	NHEK	skin
39	chr5:177954600-177958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:177954600-177959000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:177954600-177959200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:177954600-177959800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:177954600-177973800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:177954800-177959000	Weak transcription	Fetal Thymus	thymus
45	chr5:177954800-177962400	Weak transcription	Right Atrium	heart
46	chr5:177955000-177955200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:177955000-177955400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:177955000-177959200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:177955200-177955400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:177955200-177956600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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