Variant report

Variant	nsv428517
Chromosome Location	chr8:50094920-50232993
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:57)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:49959412..49962230-chr8:50108460..50111062,2	K562	blood:
2	chr8:50158291..50160893-chr8:50161385..50163707,3	K562	blood:
3	chr8:50219874..50222720-chr8:50223488..50225514,3	K562	blood:
4	chr8:50122009..50123670-chr8:50128301..50129864,2	K562	blood:
5	chr8:50224322..50226256-chr8:50228266..50231187,2	K562	blood:
6	chr8:50154056..50156142-chr8:50160235..50163146,3	K562	blood:
7	chr8:50154600..50156142-chr8:50160235..50163146,2	K562	blood:
8	chr8:50187361..50189118-chr8:50190967..50193350,2	K562	blood:
9	chr8:50158291..50160893-chr8:50161385..50163707,3	K562	blood:
10	chr8:50157489..50159096-chr8:50164088..50165590,2	K562	blood:
11	chr8:50207112..50210089-chr8:50216692..50218806,2	K562	blood:
12	chr8:49891275..49892295-chr8:50142649..50143406,4	K562	blood:
13	chr8:50142308..50144994-chr8:50148031..50149920,2	K562	blood:
14	chr8:50201423..50204477-chr8:50211622..50215340,4	K562	blood:
15	chr8:50104222..50107867-chr8:50114217..50118175,4	K562	blood:
16	chr8:50151168..50153815-chr8:50156389..50158131,2	K562	blood:
17	chr8:50157596..50161511-chr8:50162518..50165588,4	K562	blood:
18	chr8:50223069..50226256-chr8:50227030..50231187,6	K562	blood:
19	chr8:50169460..50172760-chr8:50198302..50201832,3	K562	blood:
20	chr8:50154056..50156142-chr8:50160235..50163146,3	K562	blood:
21	chr8:50141654..50144587-chr8:50158970..50161464,2	K562	blood:
22	chr8:50142308..50144662-chr8:50148420..50150993,2	K562	blood:
23	chr8:50220131..50222425-chr8:50223280..50225514,2	K562	blood:
24	chr8:50104222..50107867-chr8:50114217..50118175,4	K562	blood:
25	chr8:50187361..50189118-chr8:50190967..50193350,2	K562	blood:
26	chr8:50207112..50210089-chr8:50216692..50218806,2	K562	blood:
27	chr8:50130806..50133714-chr8:50138525..50141483,2	K562	blood:
28	chr8:50152755..50154447-chr8:50156418..50158497,2	K562	blood:
29	chr8:50122009..50123670-chr8:50128301..50129864,2	K562	blood:
30	chr8:50174406..50177036-chr8:50205443..50207064,2	K562	blood:
31	chr8:50189228..50191927-chr8:50203055..50205664,2	K562	blood:
32	chr8:50130806..50133714-chr8:50138525..50141483,2	K562	blood:
33	chr8:50219874..50222720-chr8:50223488..50225514,3	K562	blood:
34	chr8:50142308..50144994-chr8:50148031..50149920,2	K562	blood:
35	chr8:50198141..50200837-chr8:50202344..50203937,2	K562	blood:
36	chr8:50169460..50172760-chr8:50198302..50201832,3	K562	blood:
37	chr8:50174406..50177036-chr8:50205443..50207064,2	K562	blood:
38	chr8:50157596..50161511-chr8:50162518..50165588,4	K562	blood:
39	chr8:50152755..50154447-chr8:50156418..50158497,2	K562	blood:
40	chr8:50114787..50117721-chr8:50120524..50123676,3	K562	blood:
41	chr8:50201423..50204477-chr8:50211622..50215340,4	K562	blood:
42	chr8:50157489..50159096-chr8:50164088..50165590,2	K562	blood:
43	chr8:50223069..50226256-chr8:50227030..50231187,6	K562	blood:
44	chr8:50114787..50117721-chr8:50120524..50123676,3	K562	blood:
45	chr8:50220433..50222102-chr8:50312150..50314977,2	K562	blood:
46	chr8:50198141..50200837-chr8:50202344..50203937,2	K562	blood:
47	chr8:50189228..50191927-chr8:50203055..50205664,2	K562	blood:
48	chr8:50087104..50089647-chr8:50092325..50095180,2	K562	blood:
49	chr8:50154600..50156142-chr8:50160235..50163146,2	K562	blood:
50	chr8:49890957..49892066-chr8:50142626..50143516,6	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-738G5.2.1-6	chr8:50209735-50210341	ucscGeneNc_uc003xqr_2
2	lnc-C8orf22-2	chr8:50141117-50142346	XLOC_006794
3	lnc-C8orf22-2	chr8:50137497-50137609	XLOC_006794
4	lnc-C8orf22-2	chr8:50137497-50137609	ENSG00000253474
5	lnc-C8orf22-2	chr8:50105666-50105812	XLOC_006793
6	lnc-C8orf22-2	chr8:50137496-50137609	NONHSAT126506
7	lnc-C8orf22-2	chr8:50141116-50142388	NONHSAT126506
8	lnc-C8orf22-2	chr8:50141117-50141484	ENSG00000253474
9	lnc-C8orf22-2	chr8:50140698-50140779	NONHSAT126506
10	lnc-C8orf22-2	chr8:50137500-50137588	ENSG00000253474
11	lnc-C8orf22-2	chr8:50140699-50140779	XLOC_006794
12	lnc-C8orf22-2	chr8:50103993-50107149	NONHSAT126506
13	lnc-C8orf22-2	chr8:50105666-50105754	ENSG00000253474
14	lnc-C8orf22-2	chr8:50137497-50137609	XLOC_006794
15	lnc-C8orf22-2	chr8:50140699-50140779	ENSG00000253474
16	lnc-C8orf22-2	chr8:50140699-50140944	XLOC_006794
17	lnc-C8orf22-2	chr8:50105666-50105812	XLOC_006793
18	lnc-C8orf22-2	chr8:50118940-50119026	NONHSAT126506

No data

Extended variants
information (count: 3734 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3734 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566930832	chr8:50099886-50099887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2127683	chr8:50099937-50099938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577142016	chr8:50100020-50100021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565931827	chr8:50100031-50100032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539362038	chr8:50100044-50100045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111949390	chr8:50100067-50100068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191913577	chr8:50100094-50100095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79097049	chr8:50100108-50100109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372029539	chr8:50100162-50100163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116649745	chr8:50100169-50100170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4355782	chr8:50100201-50100202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184039234	chr8:50100205-50100206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370837726	chr8:50100209-50100210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116325365	chr8:50100224-50100225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531834797	chr8:50100230-50100231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578159860	chr8:50100231-50100232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200911535	chr8:50100237-50100238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564052835	chr8:50100283-50100284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571462981	chr8:50100306-50100307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201100778	chr8:50100356-50100357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4873324	chr8:50100364-50100365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573666383	chr8:50100365-50100366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72643127	chr8:50100406-50100407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139057104	chr8:50100410-50100411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72643128	chr8:50100416-50100417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10103577	chr8:50100443-50100444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188436463	chr8:50100462-50100463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72643129	chr8:50100475-50100476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532586243	chr8:50100531-50100532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115119271	chr8:50100549-50100550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569641763	chr8:50100567-50100568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536821774	chr8:50100573-50100574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548780966	chr8:50100608-50100609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566979774	chr8:50100612-50100613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572828835	chr8:50100613-50100614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77804228	chr8:50100617-50100618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568658951	chr8:50100641-50100642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534413005	chr8:50100714-50100715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531261679	chr8:50100767-50100768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577554316	chr8:50100778-50100779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192430220	chr8:50100793-50100794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184395970	chr8:50100820-50100821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544765807	chr8:50100838-50100839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576031976	chr8:50100874-50100875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141647189	chr8:50100890-50100891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34306195	chr8:50100891-50100892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543212324	chr8:50100945-50100946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558668038	chr8:50100963-50100964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551780199	chr8:50104025-50104026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs529427149	chr8:50104037-50104038	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50099800-50100000	Enhancers	Stomach Mucosa	stomach
2	chr8:50100000-50100600	Weak transcription	Stomach Mucosa	stomach
3	chr8:50100600-50101000	Enhancers	Stomach Mucosa	stomach
4	chr8:50105600-50105800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:50105800-50108400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:50109000-50109600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:50109000-50109600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:50109400-50109800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:50109400-50109800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:50109400-50110000	Enhancers	K562	blood
11	chr8:50111000-50111600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:50118200-50118400	Enhancers	Pancreas	Pancrea
13	chr8:50118200-50118600	Enhancers	GM12878-XiMat	blood
14	chr8:50118400-50119400	Enhancers	Stomach Mucosa	stomach
15	chr8:50118400-50122200	Weak transcription	Pancreas	Pancrea
16	chr8:50119400-50122200	Weak transcription	Stomach Mucosa	stomach
17	chr8:50120600-50121400	Enhancers	K562	blood
18	chr8:50121400-50124800	Weak transcription	K562	blood
19	chr8:50122200-50122600	ZNF genes & repeats	Pancreas	Pancrea
20	chr8:50122200-50123200	Enhancers	Stomach Mucosa	stomach
21	chr8:50122400-50123200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:50122400-50123800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:50122800-50123600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:50123000-50123600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:50123000-50123600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:50123200-50128800	Weak transcription	Stomach Mucosa	stomach
27	chr8:50123200-50129600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:50123800-50124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:50124800-50125000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:50124800-50125200	Enhancers	K562	blood
31	chr8:50125200-50131800	Weak transcription	K562	blood
32	chr8:50128800-50129800	Enhancers	Stomach Mucosa	stomach
33	chr8:50129600-50130000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:50129800-50131800	Weak transcription	Stomach Mucosa	stomach
35	chr8:50131800-50132400	Enhancers	Stomach Mucosa	stomach
36	chr8:50131800-50133800	Enhancers	K562	blood
37	chr8:50132400-50141000	Weak transcription	Stomach Mucosa	stomach
38	chr8:50132600-50132800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr8:50133800-50137400	Weak transcription	K562	blood
40	chr8:50137400-50138000	Enhancers	K562	blood
41	chr8:50138000-50139000	Weak transcription	K562	blood
42	chr8:50139000-50139200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:50139000-50139600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:50139000-50140000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:50139000-50140000	Enhancers	K562	blood
46	chr8:50139200-50159400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:50139400-50140200	Enhancers	Dnd41	blood
48	chr8:50139600-50140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:50140000-50140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:50140000-50141000	Weak transcription	K562	blood

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