Variant report

Variant	esv1835443
Chromosome Location	chr8:1341878-1418894
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:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:
2	chr8:1417041..1419127-chr8:1432833..1434502,2	K562	blood:
3	chr8:1371175..1374145-chr8:1375528..1377809,2	K562	blood:
4	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
5	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
6	chr8:1400266..1403079-chr8:1711932..1713470,2	K562	blood:
7	chr8:1371175..1374145-chr8:1375528..1377809,2	K562	blood:
8	chr8:1386309..1387811-chr8:1433835..1436467,2	K562	blood:
9	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:
10	chr8:1370592..1372675-chr8:1374741..1377028,2	K562	blood:
11	chr8:1370592..1372675-chr8:1374741..1377028,2	K562	blood:
12	chr8:1399362..1401651-chr8:1405171..1407325,2	K562	blood:
13	chr8:1369379..1372067-chr8:1377362..1378869,2	K562	blood:
14	chr8:1369379..1372067-chr8:1377362..1378869,2	K562	blood:
15	chr8:1399362..1401651-chr8:1405171..1407325,2	K562	blood:
16	chr8:1408127..1410812-chr8:1426769..1429337,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP2-1	chr8:1398496-1398683	XLOC_006687
2	lnc-DLGAP2-1	chr8:1398398-1398442	XLOC_006687
3	lnc-ERICH1-5	chr8:1377481-1378077	XLOC_006973
4	lnc-ERICH1-5	chr8:1376463-1377273	XLOC_006973

No data

Variant related genes	Relation type
ENSG00000253982	chromatin interactions
ENSG00000182372	chromatin interactions

Extended variants
information (count: 4365 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:4365 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574886419	chr8:1356008-1356009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112265504	chr8:1356009-1356010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7819095	chr8:1356011-1356012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557335884	chr8:1356014-1356015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565257625	chr8:1356015-1356016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111433894	chr8:1356037-1356038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183710991	chr8:1356054-1356055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188770019	chr8:1356055-1356056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs35591395	chr8:1356056-1356057	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140454984	chr8:1356061-1356062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561826480	chr8:1356071-1356072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144417525	chr8:1356076-1356077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs181129453	chr8:1356085-1356086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186120348	chr8:1356086-1356087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541152503	chr8:1356099-1356100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191627337	chr8:1356109-1356110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10088569	chr8:1356113-1356114	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34385223	chr8:1356115-1356116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566074844	chr8:1356127-1356128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548510448	chr8:1356137-1356138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181704880	chr8:1356144-1356145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs151207004	chr8:1356153-1356154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34659395	chr8:1356169-1356170	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187642960	chr8:1356176-1356177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568576339	chr8:1356220-1356221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537227413	chr8:1356253-1356254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557501704	chr8:1356276-1356277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191911056	chr8:1356285-1356286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140989767	chr8:1356286-1356287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111861608	chr8:1356295-1356296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs553253982	chr8:1356302-1356303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs182286320	chr8:1356310-1356311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572500861	chr8:1356325-1356326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs740237	chr8:1356333-1356334	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112822712	chr8:1356386-1356387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs140528562	chr8:1356387-1356388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186557563	chr8:1356411-1356412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs740238	chr8:1356420-1356421	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190146699	chr8:1356421-1356422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs534754030	chr8:1356422-1356423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs740239	chr8:1356444-1356445	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145872494	chr8:1356453-1356454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535792290	chr8:1356466-1356467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs757891	chr8:1356486-1356487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528461418	chr8:1356489-1356490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565133001	chr8:1356506-1356507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7823071	chr8:1356510-1356511	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79044930	chr8:1356538-1356539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77570653	chr8:1356566-1356567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143339741	chr8:1356571-1356572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD
Glioma	20126413	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1356000-1356800	ZNF genes & repeats	Esophagus	oesophagus
2	chr8:1356600-1357200	Enhancers	Brain Germinal Matrix	brain
3	chr8:1357000-1357600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:1357000-1357800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:1357000-1357800	Enhancers	Fetal Brain Male	brain
6	chr8:1357800-1359600	Weak transcription	Fetal Brain Male	brain
7	chr8:1359600-1360600	Enhancers	Fetal Brain Male	brain
8	chr8:1360400-1361200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr8:1360600-1361200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr8:1361800-1362600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:1362200-1362600	Enhancers	Fetal Brain Male	brain
12	chr8:1362600-1364800	Weak transcription	Fetal Brain Male	brain
13	chr8:1363200-1365200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:1364800-1365000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:1364800-1367400	Enhancers	Fetal Brain Male	brain
16	chr8:1365000-1365600	Active TSS	Brain Germinal Matrix	brain
17	chr8:1365200-1366000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:1365400-1365600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr8:1365600-1365800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr8:1365600-1365800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr8:1365800-1366000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr8:1366000-1370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:1368600-1369400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:1368800-1369200	Enhancers	Fetal Lung	lung
25	chr8:1369800-1370000	Enhancers	Fetal Brain Male	brain
26	chr8:1370000-1370800	Weak transcription	Fetal Brain Male	brain
27	chr8:1370800-1371200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:1370800-1371600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:1370800-1372000	Enhancers	Fetal Brain Male	brain
30	chr8:1376600-1376800	Enhancers	Colon Smooth Muscle	Colon
31	chr8:1376600-1378600	Enhancers	Rectal Smooth Muscle	rectum
32	chr8:1376800-1377000	Enhancers	Fetal Brain Female	brain
33	chr8:1376800-1377200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr8:1376800-1377200	Enhancers	Right Atrium	heart
35	chr8:1376800-1377400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr8:1377000-1377600	Enhancers	Fetal Stomach	stomach
37	chr8:1377000-1377800	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:1377000-1378400	Enhancers	Fetal Brain Male	brain
39	chr8:1377000-1379400	Weak transcription	Fetal Brain Female	brain
40	chr8:1377400-1378200	Enhancers	Colon Smooth Muscle	Colon
41	chr8:1377800-1378000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:1378200-1378800	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:1378400-1379600	Weak transcription	Fetal Brain Male	brain
44	chr8:1378800-1379000	Enhancers	Colon Smooth Muscle	Colon
45	chr8:1379400-1381000	Enhancers	Fetal Brain Female	brain
46	chr8:1379600-1381200	Enhancers	Fetal Brain Male	brain
47	chr8:1380200-1381000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:1381000-1381400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr8:1381000-1386200	Weak transcription	Fetal Brain Female	brain
50	chr8:1381200-1385400	Weak transcription	Fetal Brain Male	brain

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