Variant report

Variant	nsv600399
Chromosome Location	chr5:177807623-177830769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177811102..177812638-chr5:177817501..177819406,2	K562	blood:
2	chr5:177804849..177806989-chr5:177807066..177809838,2	MCF-7	breast:
3	chr5:177806047..177808844-chr5:177816962..177819431,2	K562	blood:
4	chr5:177811102..177814167-chr5:177815792..177819406,4	K562	blood:
5	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:
6	chr5:177804316..177806496-chr5:177806617..177809077,2	K562	blood:
7	chr5:177806047..177808844-chr5:177816962..177819431,2	K562	blood:
8	chr5:177811102..177812638-chr5:177817501..177819406,2	K562	blood:
9	chr5:177799370..177801920-chr5:177806975..177809019,2	MCF-7	breast:
10	chr5:177811102..177814167-chr5:177815792..177819406,4	K562	blood:
11	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:
12	chr5:177808919..177811059-chr5:177815128..177817359,2	K562	blood:
13	chr5:177808919..177811059-chr5:177815128..177817359,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242341	chromatin interactions

Extended variants
information (count: 1090 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6875766	chr5:177807623-177807624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532455048	chr5:177807632-177807633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551077391	chr5:177807651-177807652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562707744	chr5:177807662-177807663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116586704	chr5:177807683-177807684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554563984	chr5:177807693-177807694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369308549	chr5:177807708-177807709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548892867	chr5:177807714-177807715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138861208	chr5:177807721-177807722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142812776	chr5:177807727-177807728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117491306	chr5:177807728-177807729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377294517	chr5:177807731-177807732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184270822	chr5:177807743-177807744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571046348	chr5:177807744-177807745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188333277	chr5:177807746-177807747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115769761	chr5:177807791-177807792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567941375	chr5:177807795-177807796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147475290	chr5:177807801-177807802	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114208900	chr5:177807804-177807805	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10040734	chr5:177807861-177807862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs60202404	chr5:177807876-177807877	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534229089	chr5:177807926-177807927	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557641681	chr5:177807927-177807928	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78120702	chr5:177807928-177807929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544367624	chr5:177807940-177807941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375253369	chr5:177807941-177807942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563043521	chr5:177807957-177807958	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181904052	chr5:177807958-177807959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542201832	chr5:177807979-177807980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139306883	chr5:177807986-177807987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527960869	chr5:177807990-177807991	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527671627	chr5:177808008-177808009	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552849331	chr5:177808066-177808067	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373661473	chr5:177808109-177808110	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149551812	chr5:177808112-177808113	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10038656	chr5:177808120-177808121	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10040822	chr5:177808157-177808158	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186595304	chr5:177808169-177808170	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4976769	chr5:177808188-177808189	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553307046	chr5:177808191-177808192	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111339727	chr5:177808198-177808199	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144255334	chr5:177808200-177808201	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34176122	chr5:177808203-177808204	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546107659	chr5:177808205-177808206	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558069681	chr5:177808222-177808223	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576138607	chr5:177808223-177808224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371992195	chr5:177808291-177808292	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142471951	chr5:177808293-177808294	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111815348	chr5:177808309-177808310	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556701434	chr5:177808310-177808311	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177798800-177816400	Weak transcription	Right Atrium	heart
2	chr5:177802600-177807800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:177804000-177808600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:177804600-177809600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:177804800-177812800	Weak transcription	Spleen	Spleen
6	chr5:177805000-177809200	Weak transcription	Fetal Thymus	thymus
7	chr5:177805000-177809600	Weak transcription	Thymus	Thymus
8	chr5:177805000-177814800	Weak transcription	Gastric	stomach
9	chr5:177805800-177808000	Enhancers	Fetal Stomach	stomach
10	chr5:177806400-177809600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:177806600-177809400	Weak transcription	Fetal Lung	lung
12	chr5:177806600-177809600	Weak transcription	Fetal Intestine Large	intestine
13	chr5:177807000-177810200	Enhancers	HSMMtube	muscle
14	chr5:177807200-177808800	Enhancers	Fetal Muscle Trunk	muscle
15	chr5:177807200-177810400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:177807400-177810800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:177807600-177808200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177807800-177808000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:177807800-177808600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:177808000-177809400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:177808000-177815200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr5:177808200-177809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:177808600-177809800	Enhancers	Fetal Intestine Small	intestine
24	chr5:177808600-177810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:177808800-177809600	Weak transcription	Fetal Heart	heart
26	chr5:177808800-177812600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr5:177809200-177810400	Enhancers	Fetal Thymus	thymus
28	chr5:177809200-177811800	Enhancers	Fetal Brain Male	brain
29	chr5:177809200-177812800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:177809400-177810200	Enhancers	Fetal Lung	lung
31	chr5:177809400-177811000	Enhancers	Fetal Brain Female	brain
32	chr5:177809400-177812200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:177809400-177813000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:177809600-177809800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:177809600-177810200	Enhancers	Fetal Intestine Large	intestine
36	chr5:177809600-177810400	Enhancers	Thymus	Thymus
37	chr5:177809600-177812400	Enhancers	Fetal Heart	heart
38	chr5:177809600-177812800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:177809600-177815400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:177809600-177820400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:177809800-177819400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:177810000-177810800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:177810000-177811600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:177810000-177812800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:177810200-177810400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:177810200-177810400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr5:177810200-177810400	Weak transcription	HSMMtube	muscle
48	chr5:177810200-177811000	Enhancers	Right Ventricle	heart
49	chr5:177810200-177811800	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr5:177810200-177812000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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