Variant report

Variant	nsv889889
Chromosome Location	chr8:2759321-2847793
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
2	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
3	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
4	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
5	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
6	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
7	chr8:2807090..2809618-chr8:2810131..2812538,2	K562	blood:
8	chr8:2790313..2793074-chr8:2794638..2796914,2	K562	blood:
9	chr8:2753797..2757716-chr8:2758640..2762168,3	K562	blood:
10	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
11	chr8:2822063..2824754-chr8:2827562..2829659,2	K562	blood:
12	chr8:2829379..2830950-chr8:2834355..2837068,2	K562	blood:
13	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
14	chr8:2784674..2786393-chr8:2792193..2794250,2	K562	blood:
15	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
16	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
17	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:
18	chr16:12825533..12827033-chr8:2762155..2763733,2	K562	blood:
19	chr8:2828762..2830879-chr8:2834821..2837068,2	K562	blood:
20	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
21	chr8:2832391..2834459-chr8:2835771..2837988,2	K562	blood:
22	chr8:2768643..2771123-chr8:2792166..2794441,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYOM2-13	chr8:2778500-2779629	NONHSAT124739

No data

Extended variants
information (count: 4656 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:4656 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2670064	chr8:2768034-2768035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142212376	chr8:2768051-2768052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568613469	chr8:2768063-2768064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146730526	chr8:2768072-2768073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545467797	chr8:2768119-2768120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571200629	chr8:2768128-2768129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368883367	chr8:2768182-2768183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183349323	chr8:2768189-2768190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540100954	chr8:2768216-2768217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145059640	chr8:2768217-2768218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573354517	chr8:2768233-2768234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536080475	chr8:2768268-2768269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78162326	chr8:2768269-2768270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146828925	chr8:2768286-2768287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544759239	chr8:2768291-2768292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573788630	chr8:2768315-2768316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187032765	chr8:2768375-2768376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192289636	chr8:2768420-2768421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564504226	chr8:2768491-2768492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577981042	chr8:2768534-2768535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577489283	chr8:2768567-2768568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560208878	chr8:2768568-2768569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371234935	chr8:2768614-2768615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559329403	chr8:2768639-2768640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564737923	chr8:2768644-2768645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184450080	chr8:2768652-2768653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548774561	chr8:2768677-2768678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541180195	chr8:2768684-2768685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374763339	chr8:2768719-2768720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61032938	chr8:2768722-2768723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551214512	chr8:2768729-2768730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571203582	chr8:2768740-2768741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140496038	chr8:2768771-2768772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547247512	chr8:2768826-2768827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567175868	chr8:2768834-2768835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542507610	chr8:2768844-2768845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188075348	chr8:2768878-2768879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555987999	chr8:2768885-2768886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150409599	chr8:2768899-2768900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538320172	chr8:2768996-2768997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193244883	chr8:2769052-2769053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs341766	chr8:2769076-2769077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78169887	chr8:2769095-2769096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560352996	chr8:2769113-2769114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7004094	chr8:2769115-2769116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185403985	chr8:2769123-2769124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541022951	chr8:2769129-2769130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562318404	chr8:2769131-2769132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189474799	chr8:2769193-2769194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62487705	chr8:2769199-2769200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:127)

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
Cancer	20164919	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
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2768000-2768200	Enhancers	Gastric	stomach
2	chr8:2768000-2769200	Enhancers	Brain Germinal Matrix	brain
3	chr8:2768200-2772000	Weak transcription	Gastric	stomach
4	chr8:2769600-2769800	Enhancers	Fetal Intestine Small	intestine
5	chr8:2769800-2773400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:2772000-2772200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:2772000-2772200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:2772000-2772200	ZNF genes & repeats	Gastric	stomach
9	chr8:2772200-2772800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:2772200-2777400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:2772200-2779600	Weak transcription	Gastric	stomach
12	chr8:2772400-2773800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:2772400-2779800	Weak transcription	Fetal Stomach	stomach
14	chr8:2772600-2772800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:2772800-2773400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:2772800-2774400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:2773200-2773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:2773200-2774200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:2773200-2774400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:2773400-2774000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:2773400-2774400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:2773400-2774400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:2773400-2774600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:2773400-2774600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:2773400-2774800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:2773400-2775000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:2773400-2775000	Enhancers	Fetal Intestine Small	intestine
28	chr8:2773400-2776000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:2773600-2774400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:2773600-2774800	Enhancers	Fetal Intestine Large	intestine
31	chr8:2773600-2775400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:2773600-2775400	Enhancers	Osteobl	bone
33	chr8:2773800-2774200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:2773800-2774600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:2773800-2774800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:2773800-2775600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:2774000-2774400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:2774000-2774400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:2774000-2774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:2774200-2776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:2774200-2776800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:2774400-2775200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:2774400-2775600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:2774400-2777400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:2774600-2775000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:2774800-2776600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:2774800-2777200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:2775200-2775400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:2775800-2776600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:2776000-2777000	Enhancers	HUES48 Cell Line	embryonic stem cell

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