Variant report

Variant	nsv8262
Chromosome Location	chr8:1406548-1426185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
2	chr8:1417041..1419127-chr8:1432833..1434502,2	K562	blood:
3	chr8:1399362..1401651-chr8:1405171..1407325,2	K562	blood:
4	chr8:1408127..1410812-chr8:1426769..1429337,2	K562	blood:
5	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:
6	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:

Extended variants
information (count: 1424 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:1424 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74736300	chr8:1406558-1406559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148596841	chr8:1406566-1406567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374371642	chr8:1406597-1406598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190434016	chr8:1406600-1406601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561191324	chr8:1406608-1406609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376194801	chr8:1406654-1406655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145554707	chr8:1406656-1406657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531603595	chr8:1406657-1406658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79951322	chr8:1406659-1406660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567955540	chr8:1406685-1406686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536608968	chr8:1406689-1406690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7009246	chr8:1406727-1406728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182211201	chr8:1406736-1406737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539162631	chr8:1406752-1406753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147727504	chr8:1406758-1406759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116977791	chr8:1406789-1406790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs929384	chr8:1406801-1406802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562054403	chr8:1406813-1406814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575618251	chr8:1406837-1406838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187176349	chr8:1406860-1406861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561367700	chr8:1406861-1406862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563692643	chr8:1406894-1406895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142023990	chr8:1406987-1406988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552670923	chr8:1407002-1407003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191189791	chr8:1407019-1407020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529619054	chr8:1407028-1407029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528726222	chr8:1407029-1407030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548508915	chr8:1407054-1407055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568369007	chr8:1407055-1407056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73534650	chr8:1407076-1407077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555094796	chr8:1407088-1407089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547754650	chr8:1407128-1407129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570148637	chr8:1407144-1407145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567633670	chr8:1407146-1407147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147764629	chr8:1407153-1407154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371908650	chr8:1407156-1407157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7005907	chr8:1407176-1407177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111279807	chr8:1407180-1407181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113389987	chr8:1407199-1407200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7005928	chr8:1407217-1407218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs33997565	chr8:1407220-1407221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34275844	chr8:1407224-1407225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373675068	chr8:1407249-1407250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535595048	chr8:1407252-1407253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6985311	chr8:1407253-1407254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112303733	chr8:1407270-1407271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6985336	chr8:1407290-1407291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6985340	chr8:1407296-1407297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575579700	chr8:1407299-1407300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35941190	chr8:1407322-1407323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1400400-1407600	Enhancers	Fetal Brain Male	brain
2	chr8:1404200-1411600	Weak transcription	Spleen	Spleen
3	chr8:1404600-1406800	Enhancers	Fetal Brain Female	brain
4	chr8:1405200-1412200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1410400-1411800	Weak transcription	Right Atrium	heart
6	chr8:1410800-1412200	Enhancers	Left Ventricle	heart
7	chr8:1410800-1412400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:1411600-1416000	Enhancers	Spleen	Spleen
9	chr8:1411800-1412000	Enhancers	Right Atrium	heart
10	chr8:1411800-1412200	Enhancers	Adipose Nuclei	Adipose
11	chr8:1411800-1413000	Enhancers	Right Ventricle	heart
12	chr8:1412000-1412600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:1412200-1412400	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr8:1412200-1412600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr8:1412200-1412600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr8:1412200-1412600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:1412200-1412800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:1412200-1412800	Weak transcription	Left Ventricle	heart
19	chr8:1412400-1412600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr8:1412400-1412600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr8:1412400-1412800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr8:1412400-1413000	Enhancers	Pancreas	Pancrea
23	chr8:1412600-1413000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
24	chr8:1412600-1413600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:1412600-1413800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:1412600-1416400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:1412800-1413000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:1412800-1413000	Enhancers	Left Ventricle	heart
29	chr8:1412800-1413000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:1412800-1415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:1413000-1414200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:1413000-1414400	Weak transcription	Pancreas	Pancrea
33	chr8:1413800-1414200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:1413800-1414400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:1413800-1415200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:1414000-1415600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:1414000-1415800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:1414000-1416000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr8:1414000-1416000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:1414200-1414800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr8:1414200-1415600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr8:1414200-1416000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:1414200-1416000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr8:1414400-1414600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr8:1414400-1414600	Enhancers	Pancreas	Pancrea
46	chr8:1414400-1414600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:1414400-1415000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:1414400-1415000	Bivalent Enhancer	Fetal Stomach	stomach
49	chr8:1414400-1415400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr8:1414400-1415400	Enhancers	Primary hematopoietic stem cells	blood

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