Variant report

Variant	nsv1031634
Chromosome Location	chr8:5151611-5234951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:
2	chr8:5197871..5199494-chr8:5211295..5212821,2	K562	blood:
3	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:
4	chr8:5196215..5198446-chr8:5199730..5201571,2	K562	blood:

Extended variants
information (count: 2467 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2467 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190210317	chr8:5151613-5151614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115691709	chr8:5151619-5151620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116811057	chr8:5151655-5151656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9657414	chr8:5151669-5151670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79077200	chr8:5151697-5151698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534976338	chr8:5151707-5151708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143825805	chr8:5151730-5151731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539972277	chr8:5151747-5151748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553123368	chr8:5151750-5151751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181917049	chr8:5151781-5151782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545257051	chr8:5151863-5151864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146627684	chr8:5151875-5151876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186182247	chr8:5151887-5151888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191026355	chr8:5151894-5151895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531157595	chr8:5151920-5151921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180721556	chr8:5151928-5151929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185168416	chr8:5151931-5151932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141404580	chr8:5151938-5151939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547134529	chr8:5151953-5151954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565276388	chr8:5151955-5151956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145018902	chr8:5151960-5151961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532354946	chr8:5151962-5151963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550553197	chr8:5151969-5151970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10107440	chr8:5151979-5151980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138807334	chr8:5151989-5151990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554534105	chr8:5152019-5152020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367686347	chr8:5152024-5152025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533608796	chr8:5152044-5152045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558240323	chr8:5152047-5152048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142045332	chr8:5152057-5152058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545581440	chr8:5152084-5152085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557315293	chr8:5152085-5152086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150418768	chr8:5152086-5152087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138043099	chr8:5152090-5152091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190997318	chr8:5152091-5152092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561355163	chr8:5152092-5152093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540687927	chr8:5152113-5152114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565379649	chr8:5152117-5152118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111376686	chr8:5152132-5152133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112778691	chr8:5152151-5152152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377212300	chr8:5152165-5152166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529978594	chr8:5152178-5152179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144017980	chr8:5152180-5152181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138967241	chr8:5152187-5152188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533548294	chr8:5152205-5152206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558177242	chr8:5152212-5152213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550280934	chr8:5152230-5152231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183302532	chr8:5152251-5152252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569049085	chr8:5152260-5152261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13267396	chr8:5152271-5152272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5150200-5157400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:5154800-5155200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:5157400-5157600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:5157800-5159400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:5158600-5158800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:5158600-5159000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:5164000-5164200	Enhancers	Pancreas	Pancrea
8	chr8:5169200-5170000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:5169400-5169800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:5178400-5179000	Enhancers	NHEK	skin
11	chr8:5178600-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:5178800-5179200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:5178800-5179400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr8:5179000-5179400	Active TSS	A549	lung
15	chr8:5189800-5190000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:5193600-5194400	Enhancers	Fetal Brain Male	brain
17	chr8:5206400-5206800	Enhancers	Fetal Kidney	kidney
18	chr8:5206600-5207200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:5206600-5207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:5207200-5207600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:5207200-5208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:5207400-5207800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:5207600-5207800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:5207600-5208200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:5207800-5212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:5207800-5212600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:5210000-5212800	Weak transcription	Gastric	stomach
28	chr8:5212600-5213000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:5212600-5213200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:5212800-5213000	ZNF genes & repeats	Gastric	stomach
31	chr8:5218800-5220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:5219600-5220200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:5220200-5226200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:5226200-5227000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:5226400-5227200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:5226800-5227000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:5229000-5229200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:5229200-5229400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:5229200-5229400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:5229200-5229400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
41	chr8:5229200-5229400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:5229200-5229400	Bivalent Enhancer	Esophagus	oesophagus
43	chr8:5229200-5229400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
44	chr8:5229400-5244400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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