Variant report

Variant	esv275541
Chromosome Location	chr8:8766881-8791144
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:7)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8771578..8774012-chr8:8776513..8780192,4	K562	blood:
2	chr8:8771578..8774012-chr8:8776513..8780192,4	K562	blood:
3	chr8:8768376..8769923-chr8:8770892..8773013,2	K562	blood:
4	chr8:8768376..8770041-chr8:8770697..8772392,2	K562	blood:
5	chr8:8768376..8769923-chr8:8770892..8773013,2	K562	blood:
6	chr8:8776686..8778315-chr8:8828104..8830200,2	K562	blood:
7	chr8:8768376..8770041-chr8:8770697..8772392,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-3	chr8:8780049-8780260	XLOC_006699
2	lnc-ERI1-6	chr8:8791058-8791556	FPKM1_group_30838_transcript_2
3	lnc-ERI1-3	chr8:8784501-8784509	XLOC_006699
4	lnc-ERI1-3	chr8:8784498-8784966	NONHSAT124893
5	lnc-ERI1-3	chr8:8779795-8780541	NONHSAT124893
6	lnc-ERI1-6	chr8:8791058-8791556	NONHSAT124895

No data

Extended variants
information (count: 1366 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9329172	chr8:8766881-8766882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116493537	chr8:8766882-8766883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150147945	chr8:8766897-8766898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs33911650	chr8:8766898-8766899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529064503	chr8:8766905-8766906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549221875	chr8:8766920-8766921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192057307	chr8:8766935-8766936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547759253	chr8:8766953-8766954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183604366	chr8:8766956-8766957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9329173	chr8:8766959-8766960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs550038327	chr8:8766979-8766980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570146367	chr8:8766984-8766985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188440085	chr8:8767041-8767042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565294047	chr8:8767079-8767080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555541480	chr8:8767091-8767092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148383340	chr8:8767116-8767117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs427041	chr8:8767153-8767154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141586035	chr8:8767169-8767170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58754991	chr8:8767179-8767180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373325025	chr8:8767193-8767194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191683261	chr8:8767204-8767205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577604030	chr8:8767230-8767231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs388774	chr8:8767236-8767237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113319999	chr8:8767261-8767262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs391723	chr8:8767294-8767295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184187121	chr8:8767296-8767297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559625868	chr8:8767313-8767314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528390825	chr8:8767321-8767322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551414838	chr8:8767326-8767327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150896315	chr8:8767331-8767332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545700446	chr8:8767364-8767365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533138783	chr8:8767365-8767366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112949981	chr8:8767366-8767367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569766386	chr8:8767380-8767381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73524070	chr8:8767394-8767395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10046647	chr8:8767408-8767409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186632677	chr8:8767471-8767472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565963129	chr8:8767483-8767484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530451999	chr8:8767491-8767492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558134389	chr8:8767499-8767500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143944963	chr8:8767507-8767508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536597159	chr8:8767517-8767518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373520599	chr8:8767535-8767536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556927954	chr8:8767536-8767537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10046734	chr8:8767545-8767546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147285393	chr8:8767550-8767551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs407830	chr8:8767564-8767565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559565542	chr8:8767569-8767570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573108829	chr8:8767570-8767571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191387869	chr8:8767571-8767572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8752800-8775000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:8758600-8775000	Weak transcription	Small Intestine	intestine
4	chr8:8759200-8770200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:8759200-8770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:8762400-8769400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:8762400-8770800	Weak transcription	HUVEC	blood vessel
8	chr8:8763000-8770600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
10	chr8:8766200-8769400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:8766400-8769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:8766400-8775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:8767200-8774400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:8768200-8768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:8769200-8769400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:8769400-8769600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:8769400-8769600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:8769400-8770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:8769600-8770600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:8769600-8770600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:8770200-8770800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:8770200-8772400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:8770400-8770800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:8770600-8770800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:8770600-8771000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:8770600-8771600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:8770600-8771600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:8770600-8771800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:8770600-8771800	Enhancers	NHDF-Ad	bronchial
30	chr8:8770800-8771000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:8770800-8771200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:8770800-8771200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:8770800-8771200	Enhancers	HUVEC	blood vessel
34	chr8:8770800-8771600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:8770800-8771600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:8770800-8775000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:8771000-8771400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:8771000-8771800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:8771000-8771800	Enhancers	NH-A	brain
40	chr8:8771000-8771800	Enhancers	Osteobl	bone
41	chr8:8771000-8774000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:8771200-8772400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:8771200-8775000	Weak transcription	HUVEC	blood vessel
44	chr8:8771200-8776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:8771600-8771800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:8771600-8771800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:8771600-8771800	Enhancers	HSMM	muscle
48	chr8:8771600-8775000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:8771600-8775000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:8771800-8774200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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