Variant report

Variant	esv17835
Chromosome Location	chr6:4569272-4572127
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4566232..4568261-chr6:4571850..4574197,2	K562	blood:
2	chr6:4334813..4337787-chr6:4569506..4572040,2	K562	blood:
3	chr6:4566632..4568835-chr6:4570371..4571967,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP40-11	chr6:4571966-4572120	NONHSAT107453
2	lnc-RPP40-11	chr6:4569838-4570669	NONHSAT107453
3	lnc-RPP40-11	chr6:4569113-4569326	NONHSAT107453
4	lnc-RPP40-11	chr6:4569482-4569693	NONHSAT107453

No data

Extended variants
information (count: 106 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs119194	chr6:4569275-4569276	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554612207	chr6:4569299-4569300	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187806217	chr6:4569308-4569309	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs141719058	chr6:4569318-4569319	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs564461427	chr6:4569375-4569376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559972960	chr6:4569380-4569381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573413879	chr6:4569388-4569389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545169815	chr6:4569420-4569421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565419229	chr6:4569442-4569443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530920875	chr6:4569447-4569448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140483531	chr6:4569453-4569454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7775391	chr6:4569480-4569481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150566157	chr6:4569523-4569524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs421930	chr6:4569648-4569649	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546522976	chr6:4569758-4569759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs424137	chr6:4569763-4569764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538870866	chr6:4569816-4569817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189578323	chr6:4569848-4569849	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs529407051	chr6:4569867-4569868	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs57941781	chr6:4569869-4569870	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs373592157	chr6:4569873-4569874	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs537546879	chr6:4569881-4569882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs376366058	chr6:4569918-4569919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs71547272	chr6:4569927-4569928	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs147484888	chr6:4569929-4569930	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs561546865	chr6:4569930-4569931	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs75771754	chr6:4569944-4569945	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs554575614	chr6:4569966-4569967	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs138420300	chr6:4570016-4570017	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561708598	chr6:4570042-4570043	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs574499381	chr6:4570084-4570085	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536925888	chr6:4570129-4570130	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs553750298	chr6:4570136-4570137	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536845438	chr6:4570173-4570174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545546500	chr6:4570174-4570175	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs565343362	chr6:4570175-4570176	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs575667227	chr6:4570198-4570199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs544317557	chr6:4570217-4570218	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs453768	chr6:4570218-4570219	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11967928	chr6:4570269-4570270	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540131357	chr6:4570299-4570300	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528719503	chr6:4570317-4570318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560434671	chr6:4570343-4570344	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs373322091	chr6:4570345-4570346	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182605411	chr6:4570399-4570400	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs527700685	chr6:4570409-4570410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs552301661	chr6:4570417-4570418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs568978911	chr6:4570442-4570443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546550678	chr6:4570474-4570475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs570888138	chr6:4570497-4570498	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4560000-4572400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4564000-4577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:4568000-4575800	Weak transcription	Osteobl	bone
4	chr6:4568400-4581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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