Variant report

Variant	nsv1022294
Chromosome Location	chr8:4660204-4718921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4695207..4695958-chr8:4732618..4733342,2	MCF-7	breast:
2	chr8:4695059..4696118-chr8:4854167..4855161,8	MCF-7	breast:
3	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:
4	chr8:4696947..4699899-chr8:4702177..4705050,3	K562	blood:

Extended variants
information (count: 2674 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:2674 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17071408	chr8:4660204-4660205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549962566	chr8:4660218-4660219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568687633	chr8:4660229-4660230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189527428	chr8:4660231-4660232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183279029	chr8:4660233-4660234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17071409	chr8:4660252-4660253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557751767	chr8:4660274-4660275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569509339	chr8:4660294-4660295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148501405	chr8:4660308-4660309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544715049	chr8:4660315-4660316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555166294	chr8:4660321-4660322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573539005	chr8:4660339-4660340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76786307	chr8:4660381-4660382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79629213	chr8:4660397-4660398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78182829	chr8:4660406-4660407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544865835	chr8:4660409-4660410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372992793	chr8:4660421-4660422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531608543	chr8:4660448-4660449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543939049	chr8:4660488-4660489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561479458	chr8:4660513-4660514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567582517	chr8:4660527-4660528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117901626	chr8:4660534-4660535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529539683	chr8:4660542-4660543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189021391	chr8:4660545-4660546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559952897	chr8:4660556-4660557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17432531	chr8:4660585-4660586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142880462	chr8:4660586-4660587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192997043	chr8:4660620-4660621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536632740	chr8:4660637-4660638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185198094	chr8:4660644-4660645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532519424	chr8:4660645-4660646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76005229	chr8:4660656-4660657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534383945	chr8:4660689-4660690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188127019	chr8:4660699-4660700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552165722	chr8:4660748-4660749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78527216	chr8:4660773-4660774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528566616	chr8:4660782-4660783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547149137	chr8:4660786-4660787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372865669	chr8:4660799-4660800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567114152	chr8:4660806-4660807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78626670	chr8:4660807-4660808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4143928	chr8:4660815-4660816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562035326	chr8:4660820-4660821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538394536	chr8:4660827-4660828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191842005	chr8:4660850-4660851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67623182	chr8:4660854-4660855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370090950	chr8:4660859-4660860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373123849	chr8:4660860-4660861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563812343	chr8:4660874-4660875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562340565	chr8:4660884-4660885	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
Ductal carcinoma	22052326	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
Breast cancer	21364760	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4658400-4670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:4668000-4668200	Enhancers	Fetal Brain Male	brain
3	chr8:4668200-4669600	Weak transcription	Fetal Brain Male	brain
4	chr8:4669400-4669800	Active TSS	Brain Angular Gyrus	brain
5	chr8:4669400-4670000	Active TSS	Brain Substantia Nigra	brain
6	chr8:4669600-4670000	Enhancers	Fetal Brain Male	brain
7	chr8:4670000-4671600	Weak transcription	Fetal Brain Male	brain
8	chr8:4671600-4672000	Enhancers	Fetal Brain Male	brain
9	chr8:4681200-4693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:4684600-4685200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:4684800-4685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:4685000-4685200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:4685800-4686000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:4693800-4694000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:4693800-4694600	Enhancers	Brain Germinal Matrix	brain
16	chr8:4693800-4695000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:4694000-4694600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:4694000-4694600	Enhancers	Fetal Brain Female	brain
19	chr8:4694200-4694600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:4694400-4694600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:4694600-4694800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:4694800-4695000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:4694800-4695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:4695600-4695800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:4695600-4696000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:4696000-4696200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:4696200-4696400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr8:4696200-4696400	Enhancers	Esophagus	oesophagus
29	chr8:4703200-4704000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:4704200-4704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:4709600-4711400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr8:4709600-4711800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr8:4709800-4710000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr8:4709800-4711400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
35	chr8:4709800-4711600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr8:4710800-4711400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr8:4711400-4712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:4711600-4712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:4711800-4712000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:4712000-4712400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:4712000-4712400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr8:4712000-4712400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:4712000-4712400	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links