Variant report

Variant	esv2757258
Chromosome Location	chr8:9053914-9070829
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:16)
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	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
2	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
3	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
4	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:
5	chr8:9069999..9071504-chr8:9082002..9084260,2	K562	blood:
6	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-10A14.4.1-2	chr8:9060009-9060347	ENSG00000248538
2	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
3	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
4	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124931
5	lnc-RP11-10A14.4.1-2	chr8:9060009-9060366	XLOC_006705
6	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
7	lnc-RP11-10A14.4.1-2	chr8:9060009-9060363	XLOC_006705
8	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	ENSG00000248538
9	lnc-RP11-10A14.4.1-2	chr8:9056378-9056501	NONHSAT124930
10	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	XLOC_006705
11	lnc-RP11-10A14.4.1-2	chr8:9060009-9060357	NONHSAT124930
12	lnc-RP11-10A14.4.1-2	chr8:9059902-9060357	NONHSAT124931
13	lnc-RP11-10A14.4.1-2	chr8:9056434-9056501	NONHSAT124925
14	lnc-RP11-10A14.4.1-2	chr8:9059902-9060000	ENSG00000248538
15	lnc-RP11-10A14.4.1-2	chr8:9060009-9060364	ENSG00000248538
16	lnc-RP11-10A14.4.1-2	chr8:9060009-9060368	NONHSAT124925

No data

Extended variants
information (count: 953 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17155367	chr8:9053914-9053915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141439094	chr8:9053993-9053994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56938740	chr8:9054051-9054052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567595745	chr8:9054072-9054073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569688549	chr8:9054075-9054076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546546490	chr8:9054083-9054084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185564932	chr8:9054113-9054114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534666138	chr8:9054167-9054168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557841459	chr8:9054173-9054174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571395890	chr8:9054190-9054191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537292206	chr8:9054217-9054218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557109493	chr8:9054328-9054329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574285236	chr8:9054348-9054349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139218393	chr8:9054368-9054369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553363205	chr8:9054403-9054404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13266650	chr8:9054422-9054423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544670144	chr8:9054423-9054424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565020635	chr8:9054489-9054490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115956394	chr8:9054491-9054492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144158086	chr8:9054508-9054509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561084513	chr8:9054550-9054551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529824155	chr8:9054555-9054556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375354227	chr8:9054559-9054560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546879294	chr8:9054568-9054569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188808267	chr8:9054569-9054570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528524806	chr8:9054576-9054577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs118159127	chr8:9054591-9054592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146509129	chr8:9054592-9054593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370804547	chr8:9054597-9054598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537130752	chr8:9054608-9054609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181486427	chr8:9054618-9054619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139920468	chr8:9054641-9054642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536746302	chr8:9054660-9054661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553637521	chr8:9054685-9054686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573455554	chr8:9054689-9054690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545050181	chr8:9054690-9054691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143333281	chr8:9054691-9054692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575279520	chr8:9054692-9054693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544347915	chr8:9054711-9054712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560776206	chr8:9054713-9054714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529912071	chr8:9054744-9054745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540048023	chr8:9054751-9054752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560442564	chr8:9054772-9054773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532280625	chr8:9054807-9054808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142325473	chr8:9054817-9054818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71903610	chr8:9054818-9054819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386412022	chr8:9054825-9054826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185981559	chr8:9054830-9054831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10688069	chr8:9054836-9054837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375748326	chr8:9054925-9054926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9047600-9055000	Weak transcription	K562	blood
2	chr8:9049400-9055000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:9049400-9056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:9049800-9055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:9049800-9055800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:9051200-9055200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:9052400-9055400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:9052400-9056600	Weak transcription	Placenta	Placenta
9	chr8:9053800-9055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:9054600-9054800	Enhancers	Ovary	ovary
11	chr8:9054800-9055400	Weak transcription	Ovary	ovary
12	chr8:9055000-9055200	Enhancers	K562	blood
13	chr8:9055000-9056400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:9055000-9056400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:9055000-9056400	Enhancers	Fetal Heart	heart
16	chr8:9055200-9055800	Flanking Active TSS	K562	blood
17	chr8:9055200-9056000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr8:9055200-9056200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:9055400-9056600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:9055400-9057000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:9055400-9057000	Enhancers	Ovary	ovary
22	chr8:9055800-9056200	Enhancers	K562	blood
23	chr8:9055800-9056600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:9056200-9056400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:9056200-9056600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:9056200-9057000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:9056200-9057000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:9056600-9058400	Strong transcription	Placenta	Placenta
29	chr8:9056600-9064000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:9058400-9063000	Weak transcription	Placenta	Placenta
31	chr8:9059600-9060000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:9059800-9061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:9064000-9064800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr8:9064200-9064400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:9064400-9073600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:9064800-9082400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:9066000-9067400	Enhancers	Fetal Intestine Large	intestine
38	chr8:9066200-9067000	Enhancers	Fetal Intestine Small	intestine
39	chr8:9067600-9068200	Enhancers	Fetal Brain Male	brain
40	chr8:9067800-9068000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:9067800-9068200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:9069800-9070200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:9070200-9072200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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