Variant report

Variant	esv3438301
Chromosome Location	chr8:1230045-1234543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERICH1-2	chr8:1231702-1231870	refGeneNc_4249_NR_033895
2	lnc-ERICH1-3	chr8:1231015-1231036	XLOC_006971
3	lnc-ERICH1-2	chr8:1232700-1232895	refGeneNc_4249_NR_033895

Extended variants
information (count: 343 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557897573	chr8:1230058-1230059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545449430	chr8:1230072-1230073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559642698	chr8:1230080-1230081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573578024	chr8:1230092-1230093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190981961	chr8:1230117-1230118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113062747	chr8:1230132-1230133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76462301	chr8:1230149-1230150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530960981	chr8:1230179-1230180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144317859	chr8:1230180-1230181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555871868	chr8:1230201-1230202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539841331	chr8:1230224-1230225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546993581	chr8:1230235-1230236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4073503	chr8:1230238-1230239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534908927	chr8:1230245-1230246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554853982	chr8:1230268-1230269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574689638	chr8:1230288-1230289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73670706	chr8:1230289-1230290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140082074	chr8:1230292-1230293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149886933	chr8:1230300-1230301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370986842	chr8:1230361-1230362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185718537	chr8:1230383-1230384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552540433	chr8:1230384-1230385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114049340	chr8:1230386-1230387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190574698	chr8:1230395-1230396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562004208	chr8:1230404-1230405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531148232	chr8:1230437-1230438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183171560	chr8:1230460-1230461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4072075	chr8:1230509-1230510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188925822	chr8:1230519-1230520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117002234	chr8:1230523-1230524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566871336	chr8:1230535-1230536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529260527	chr8:1230565-1230566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540391002	chr8:1230568-1230569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4072074	chr8:1230570-1230571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568230421	chr8:1230576-1230577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190998768	chr8:1230578-1230579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373893777	chr8:1230612-1230613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529351230	chr8:1230614-1230615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570566300	chr8:1230624-1230625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145066560	chr8:1230638-1230639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552603342	chr8:1230642-1230643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78820165	chr8:1230654-1230655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563935242	chr8:1230673-1230674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182768926	chr8:1230686-1230687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187883396	chr8:1230701-1230702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544823302	chr8:1230705-1230706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371929003	chr8:1230723-1230724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562869955	chr8:1230727-1230728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191647753	chr8:1230745-1230746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540736666	chr8:1230751-1230752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1223600-1231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:1223800-1242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:1225200-1232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1230000-1232400	Weak transcription	Gastric	stomach
5	chr8:1230800-1231000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
6	chr8:1231400-1232600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:1231800-1232800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:1232000-1232800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1232200-1232800	ZNF genes & repeats	Spleen	Spleen
10	chr8:1232400-1232600	ZNF genes & repeats	Gastric	stomach
11	chr8:1232400-1233800	Enhancers	Fetal Brain Male	brain
12	chr8:1232600-1236800	Weak transcription	Gastric	stomach
13	chr8:1232800-1234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:1232800-1234000	Enhancers	Fetal Brain Female	brain
15	chr8:1232800-1234600	Weak transcription	Spleen	Spleen
16	chr8:1232800-1240400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:1233800-1236400	Weak transcription	Fetal Brain Male	brain
18	chr8:1234000-1234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:1234200-1234800	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links