Variant report

Variant	nsv6230
Chromosome Location	chr8:65242569-65273236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:65271814-65272014	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr8:65256084-65256221	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr8:65269612-65269791	SH-SY5Y	brain:	n/a	chr8:65269777-65269787 chr8:65269777-65269786
4	MAFF	chr8:65254886-65255179	HepG2	liver:	n/a	chr8:65255026-65255044
5	MAFF	chr8:65253848-65254047	HepG2	liver:	n/a	n/a
6	MAFK	chr8:65254881-65255142	IMR90	lung:	n/a	n/a
7	MAFK	chr8:65253769-65254030	HepG2	liver:	n/a	n/a
8	MAFK	chr8:65254864-65255192	HepG2	liver:	n/a	n/a
9	MAFK	chr8:65254857-65255188	HepG2	liver:	n/a	n/a
10	MAFK	chr8:65253808-65254048	HepG2	liver:	n/a	n/a
11	MAFK	chr8:65263965-65264111	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr8:65257681-65257740	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr8:65253836-65253895	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:65257296-65257496	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr8:65259467-65259540	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:65270076-65270482	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr8:65267115-65267549	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:65270153-65270520	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr8:65259867-65260067	MCF10A-Er-Src	breast:	n/a	n/a
20	SPI1	chr8:65254413-65254722	HL-60	blood:	n/a	n/a
21	STAT3	chr8:65243949-65244044	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr8:65256974-65257049	MCF10A-Er-Src	breast:	n/a	n/a
23	WRNIP1	chr8:65272815-65272821	GM12878	blood:	n/a	n/a
24	ZNF143	chr8:65265621-65265671	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-32K4.2.1-3	chr8:65244484-65244709	NONHSAT126955

Variant related genes	Relation type
COX6CP8	TF binding region

Extended variants
information (count: 1059 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1059 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529979506	chr8:65242592-65242593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528322024	chr8:65242610-65242611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544359646	chr8:65242635-65242636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546863211	chr8:65242643-65242644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189868617	chr8:65242645-65242646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11993477	chr8:65242655-65242656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141564685	chr8:65242659-65242660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566355675	chr8:65242680-65242681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568575980	chr8:65242688-65242689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11986260	chr8:65242706-65242707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551948606	chr8:65242711-65242712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183232878	chr8:65242714-65242715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571018147	chr8:65242820-65242821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117658477	chr8:65242822-65242823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150917382	chr8:65242833-65242834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186479927	chr8:65242836-65242837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34370633	chr8:65242897-65242898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191457864	chr8:65242936-65242937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183570806	chr8:65242939-65242940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557401938	chr8:65242945-65242946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575762540	chr8:65242989-65242990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546317188	chr8:65243072-65243073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537396672	chr8:65243125-65243126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558010426	chr8:65243126-65243127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7842178	chr8:65243130-65243131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554595436	chr8:65243145-65243146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10093773	chr8:65243151-65243152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111634657	chr8:65243167-65243168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148600543	chr8:65243199-65243200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529167700	chr8:65243227-65243228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76538208	chr8:65243233-65243234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562145829	chr8:65243245-65243246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532808499	chr8:65243267-65243268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149602266	chr8:65243297-65243298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566479638	chr8:65243337-65243338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528662320	chr8:65243487-65243488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546900015	chr8:65243571-65243572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568734480	chr8:65243608-65243609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192894987	chr8:65243634-65243635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182696021	chr8:65243660-65243661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139545127	chr8:65243664-65243665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569266650	chr8:65243699-65243700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74872289	chr8:65243710-65243711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558212922	chr8:65243720-65243721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553725857	chr8:65243735-65243736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573280361	chr8:65243741-65243742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540389758	chr8:65243773-65243774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568794806	chr8:65243792-65243793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117690120	chr8:65243866-65243867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186468657	chr8:65243903-65243904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65236400-65248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65248000-65249600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:65248200-65248800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:65248200-65249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:65249600-65260000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:65251400-65253800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:65253800-65254600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:65254200-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:65254400-65255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:65254600-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:65254600-65257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:65255200-65255400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:65257200-65257800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:65257800-65260200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:65258400-65263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:65259000-65259800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:65259800-65260200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:65260000-65260600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:65260200-65260400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:65260200-65261000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:65260400-65263400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:65260600-65264200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:65261000-65271800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:65263400-65264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:65263600-65264600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:65264000-65265600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:65264200-65264600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:65264600-65270200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:65265600-65265800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:65270200-65270800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:65270800-65272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:65271800-65273200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:65272600-65272800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:65272800-65273000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:65273000-65276200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:65273200-65273400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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