Variant report

Variant	esv275102
Chromosome Location	chr6:132996676-133001465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133001447..133003694-chr6:133009562..133012347,2	K562	blood:
2	chr6:132994919..132997703-chr6:133134162..133135954,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VNN1-1	chr6:133000174-133000309	NONHSAT114969
2	lnc-VNN1-1	chr6:132999587-133000114	NONHSAT114969

Variant related genes	Relation type
ENSG00000112306	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs2745420	chr6:132996676-132996677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539566060	chr6:132996719-132996720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549885783	chr6:132996720-132996721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537843183	chr6:132996778-132996779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369276057	chr6:132996789-132996790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554139314	chr6:132996809-132996810	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139586241	chr6:132996814-132996815	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147553046	chr6:132996815-132996816	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs66742612	chr6:132996816-132996817	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71270387	chr6:132996819-132996820	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377459106	chr6:132996820-132996821	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79405513	chr6:132996833-132996834	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2840808	chr6:132996866-132996867	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs555705724	chr6:132996951-132996952	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572209485	chr6:132996955-132996956	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535032911	chr6:132996962-132996963	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529223186	chr6:132996978-132996979	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557840087	chr6:132997045-132997046	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2840809	chr6:132997048-132997049	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs543546456	chr6:132997066-132997067	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563436977	chr6:132997132-132997133	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146511852	chr6:132997136-132997137	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2745421	chr6:132997144-132997145	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs186378341	chr6:132997171-132997172	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528749531	chr6:132997177-132997178	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552026708	chr6:132997278-132997279	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577091427	chr6:132997313-132997314	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191282514	chr6:132997335-132997336	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532949927	chr6:132997341-132997342	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139554418	chr6:132997344-132997345	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373521429	chr6:132997414-132997415	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569723136	chr6:132997423-132997424	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529113387	chr6:132997448-132997449	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548871481	chr6:132997467-132997468	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565988417	chr6:132997481-132997482	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534640431	chr6:132997482-132997483	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369530036	chr6:132997552-132997553	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74840590	chr6:132997553-132997554	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571353445	chr6:132997570-132997571	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2745422	chr6:132997571-132997572	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs557044184	chr6:132997580-132997581	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573763444	chr6:132997584-132997585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144185108	chr6:132997612-132997613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553316019	chr6:132997618-132997619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541916958	chr6:132997649-132997650	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs151069592	chr6:132997681-132997682	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545416374	chr6:132997682-132997683	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565571563	chr6:132997688-132997689	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377099485	chr6:132997732-132997733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374210087	chr6:132997764-132997765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132991400-132997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:132991800-132997000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:132993200-133002200	Weak transcription	Liver	Liver
4	chr6:132993800-132996800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:132994400-132997600	Weak transcription	Small Intestine	intestine
6	chr6:132995200-132997000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:132995200-132997400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:132995400-132998600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:132995600-132997000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:132996200-132998400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:132996400-132996800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:132996400-132997400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:132996800-132997200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:132996800-132997800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:132997000-132997200	Enhancers	Fetal Intestine Large	intestine
16	chr6:132997000-132997400	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:132997000-132997800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr6:132997000-132997800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:132997200-132997800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:132997200-132998000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:132997200-132998200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:132997400-132997600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:132997400-132998000	Enhancers	Primary B cells from cord blood	blood
24	chr6:132997400-133003000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:132997600-132997800	Enhancers	Small Intestine	intestine
26	chr6:132997800-132998400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:132997800-133000200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:132998000-133000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:132998200-133003000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:132998400-132999200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:132998400-133003000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:132999200-132999600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr6:132999600-133003200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr6:133000000-133001000	Enhancers	HSMMtube	muscle
35	chr6:133000000-133001400	Enhancers	HSMM	muscle
36	chr6:133000200-133001000	Enhancers	GM12878-XiMat	blood
37	chr6:133000200-133001200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:133000400-133001000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:133000600-133000800	Weak transcription	Psoas Muscle	Psoas
40	chr6:133000800-133001200	ZNF genes & repeats	Psoas Muscle	Psoas
41	chr6:133001000-133002400	Weak transcription	HSMMtube	muscle
42	chr6:133001000-133004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:133001200-133003400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:133001400-133004200	Weak transcription	HSMM	muscle

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