Variant report

Variant	nsv516730
Chromosome Location	chr8:9055708-9067827
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:4)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
2	chr8:9055363..9058285-chr8:9064246..9065769,2	K562	blood:
3	chr8:9061535..9063157-chr8:9069276..9071088,2	MCF-7	breast:
4	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:

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

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

No data

Extended variants
information (count: 693 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7826486	chr8:9055708-9055709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553800784	chr8:9055733-9055734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555277331	chr8:9055735-9055736	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7842096	chr8:9055740-9055741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545553557	chr8:9055745-9055746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562482836	chr8:9055748-9055749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575910585	chr8:9055758-9055759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10094141	chr8:9055772-9055773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561142782	chr8:9055776-9055777	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76144947	chr8:9055797-9055798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79063551	chr8:9055803-9055804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183951886	chr8:9055813-9055814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560532749	chr8:9055820-9055821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375018863	chr8:9055823-9055824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532796911	chr8:9055826-9055827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138833053	chr8:9055843-9055844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187233946	chr8:9055873-9055874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112952036	chr8:9055875-9055876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141351371	chr8:9055926-9055927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191161464	chr8:9055939-9055940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369195053	chr8:9055958-9055959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574431217	chr8:9055988-9055989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182950532	chr8:9056011-9056012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533733917	chr8:9056019-9056020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545563999	chr8:9056022-9056023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553594341	chr8:9056050-9056051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570202438	chr8:9056068-9056069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187668045	chr8:9056099-9056100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191745228	chr8:9056105-9056106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370762603	chr8:9056127-9056128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2242282	chr8:9056136-9056137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2242281	chr8:9056151-9056152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574752575	chr8:9056182-9056183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149372757	chr8:9056222-9056223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61738069	chr8:9056240-9056241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144713359	chr8:9056275-9056276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546451884	chr8:9056313-9056314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183038934	chr8:9056314-9056315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562064771	chr8:9056323-9056324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576616855	chr8:9056331-9056332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1842582	chr8:9056337-9056338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568695816	chr8:9056357-9056358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187690529	chr8:9056363-9056364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61744440	chr8:9056409-9056410	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570247289	chr8:9056422-9056423	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs2242280	chr8:9056426-9056427	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555813532	chr8:9056454-9056455	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs141961550	chr8:9056461-9056462	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs142715451	chr8:9056466-9056467	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs192404691	chr8:9056494-9056495	Enhancers Weak transcription	lncRNA	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:32 , 50 per page) page: 1

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

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