Variant report

Variant	esv1800343
Chromosome Location	chr8:1367056-1381408
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1369379..1372067-chr8:1377362..1378869,2	K562	blood:
2	chr8:1370592..1372675-chr8:1374741..1377028,2	K562	blood:
3	chr8:1370592..1372675-chr8:1374741..1377028,2	K562	blood:
4	chr8:1371175..1374145-chr8:1375528..1377809,2	K562	blood:
5	chr8:1369379..1372067-chr8:1377362..1378869,2	K562	blood:
6	chr8:1371175..1374145-chr8:1375528..1377809,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERICH1-5	chr8:1377481-1378077	XLOC_006973
2	lnc-ERICH1-5	chr8:1376463-1377273	XLOC_006973

No data

Extended variants
information (count: 797 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527784509	chr8:1367056-1367057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547954001	chr8:1367070-1367071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192979829	chr8:1367073-1367074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74497347	chr8:1367093-1367094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550368086	chr8:1367095-1367096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570216387	chr8:1367099-1367100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140243803	chr8:1367103-1367104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149950716	chr8:1367106-1367107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571753851	chr8:1367108-1367109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145097989	chr8:1367126-1367127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185210881	chr8:1367143-1367144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574553039	chr8:1367176-1367177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62484239	chr8:1367178-1367179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563508221	chr8:1367179-1367180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577018200	chr8:1367185-1367186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188877516	chr8:1367188-1367189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149075806	chr8:1367215-1367216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539768519	chr8:1367232-1367233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563548911	chr8:1367260-1367261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565272513	chr8:1367270-1367271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143127008	chr8:1367277-1367278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375683926	chr8:1367292-1367293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138875477	chr8:1367322-1367323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115337390	chr8:1367337-1367338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530224521	chr8:1367341-1367342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142410996	chr8:1367351-1367352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111563987	chr8:1367365-1367366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199888135	chr8:1367368-1367369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58760938	chr8:1367371-1367372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59073892	chr8:1367372-1367373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570232201	chr8:1367398-1367399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4875846	chr8:1367412-1367413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552980407	chr8:1367442-1367443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112447320	chr8:1367472-1367473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532662368	chr8:1367482-1367483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113600016	chr8:1367487-1367488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142626887	chr8:1367489-1367490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552491233	chr8:1367494-1367495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375982097	chr8:1367496-1367497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200851802	chr8:1367518-1367519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113120118	chr8:1367536-1367537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7003649	chr8:1367561-1367562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7003652	chr8:1367563-1367564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113680585	chr8:1367577-1367578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13277426	chr8:1367579-1367580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6985142	chr8:1367588-1367589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7387611	chr8:1367589-1367590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4875847	chr8:1367591-1367592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568023198	chr8:1367601-1367602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199551864	chr8:1367606-1367607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1364800-1367400	Enhancers	Fetal Brain Male	brain
2	chr8:1366000-1370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1368600-1369400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:1368800-1369200	Enhancers	Fetal Lung	lung
5	chr8:1369800-1370000	Enhancers	Fetal Brain Male	brain
6	chr8:1370000-1370800	Weak transcription	Fetal Brain Male	brain
7	chr8:1370800-1371200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:1370800-1371600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1370800-1372000	Enhancers	Fetal Brain Male	brain
10	chr8:1376600-1376800	Enhancers	Colon Smooth Muscle	Colon
11	chr8:1376600-1378600	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:1376800-1377000	Enhancers	Fetal Brain Female	brain
13	chr8:1376800-1377200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:1376800-1377200	Enhancers	Right Atrium	heart
15	chr8:1376800-1377400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr8:1377000-1377600	Enhancers	Fetal Stomach	stomach
17	chr8:1377000-1377800	Enhancers	Stomach Smooth Muscle	stomach
18	chr8:1377000-1378400	Enhancers	Fetal Brain Male	brain
19	chr8:1377000-1379400	Weak transcription	Fetal Brain Female	brain
20	chr8:1377400-1378200	Enhancers	Colon Smooth Muscle	Colon
21	chr8:1377800-1378000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr8:1378200-1378800	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:1378400-1379600	Weak transcription	Fetal Brain Male	brain
24	chr8:1378800-1379000	Enhancers	Colon Smooth Muscle	Colon
25	chr8:1379400-1381000	Enhancers	Fetal Brain Female	brain
26	chr8:1379600-1381200	Enhancers	Fetal Brain Male	brain
27	chr8:1380200-1381000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:1381000-1381400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr8:1381000-1386200	Weak transcription	Fetal Brain Female	brain
30	chr8:1381200-1385400	Weak transcription	Fetal Brain Male	brain

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