Variant report

Variant	nsv966621
Chromosome Location	chr6:64557963-64568466
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	CTCF	chr6:64560315-64560361	LNCaP	prostate:	n/a	n/a
2	E2F4	chr6:64565231-64565301	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr6:64558815-64558871	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:64558440-64558489	MCF-7	breast:	n/a	n/a
5	REST	chr6:64568169-64569243	H1-neurons	neurons:	n/a	n/a
6	SETDB1	chr6:64559121-64559314	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF3-8	chr6:64567334-64567662	NONHSAT113358

Variant related genes	Relation type
GCNT1P4	TF binding region

Extended variants
information (count: 200 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538077235	chr6:64557987-64557988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181840794	chr6:64558010-64558011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577867856	chr6:64558064-64558065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538945769	chr6:64558078-64558079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554076851	chr6:64558086-64558087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572092740	chr6:64558090-64558091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542237377	chr6:64558112-64558113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79543865	chr6:64558137-64558138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530618985	chr6:64558149-64558150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57657484	chr6:64558175-64558176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544835988	chr6:64558183-64558184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142823463	chr6:64558243-64558244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113789788	chr6:64558303-64558304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551669646	chr6:64558315-64558316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560383934	chr6:64558321-64558322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527710795	chr6:64558334-64558335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534596403	chr6:64558335-64558336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567797351	chr6:64558336-64558337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537958788	chr6:64558344-64558345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550261029	chr6:64558367-64558368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186163420	chr6:64558375-64558376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191427672	chr6:64558409-64558410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183442197	chr6:64558421-64558422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186307606	chr6:64558422-64558423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111518231	chr6:64558447-64558448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536287591	chr6:64558459-64558460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554263364	chr6:64558524-64558525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1977622	chr6:64558598-64558599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115246913	chr6:64558602-64558603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115353372	chr6:64558643-64558644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577834384	chr6:64558660-64558661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545172943	chr6:64558680-64558681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191153763	chr6:64558688-64558689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182125651	chr6:64558718-64558719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140008030	chr6:64558722-64558723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143570668	chr6:64558736-64558737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531699488	chr6:64558754-64558755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550322136	chr6:64558784-64558785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571747358	chr6:64558831-64558832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145724133	chr6:64558851-64558852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112571392	chr6:64558863-64558864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566013225	chr6:64558885-64558886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186560668	chr6:64558887-64558888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142735905	chr6:64558888-64558889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150972835	chr6:64558891-64558892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140830279	chr6:64558902-64558903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370264976	chr6:64558930-64558931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558256652	chr6:64558974-64558975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192558571	chr6:64558979-64558980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545236262	chr6:64558989-64558990	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64554800-64558600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr6:64556400-64558200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:64558200-64559000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:64559000-64559600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:64559200-64559400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:64559800-64560400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:64565600-64566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:64565600-64566400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:64566000-64566200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:64566000-64566400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:64566200-64571600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:64566400-64568400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:64566400-64568600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:64567200-64569800	Enhancers	Fetal Heart	heart
15	chr6:64568400-64568600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:64568400-64569400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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