Variant report

Variant	nsv981213
Chromosome Location	chr6:5578587-5582864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5571772..5574003-chr6:5575874..5578608,2	MCF-7	breast:
2	chr6:5579091..5581648-chr6:5587396..5590119,2	K562	blood:
3	chr6:5582656..5583214-chr6:5729828..5730668,2	MCF-7	breast:

Extended variants
information (count: 195 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs192853728	chr6:5578626-5578627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545333974	chr6:5578629-5578630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115101818	chr6:5578630-5578631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572846277	chr6:5578635-5578636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540210352	chr6:5578678-5578679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147808395	chr6:5578695-5578696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184829536	chr6:5578717-5578718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544441701	chr6:5578740-5578741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562496598	chr6:5578747-5578748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141107636	chr6:5578755-5578756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116829325	chr6:5578770-5578771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186626998	chr6:5578788-5578789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9378967	chr6:5578800-5578801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548954477	chr6:5578838-5578839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567465413	chr6:5578872-5578873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191428787	chr6:5578902-5578903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556723634	chr6:5578903-5578904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55799463	chr6:5578905-5578906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6927274	chr6:5578918-5578919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183961728	chr6:5578924-5578925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556611075	chr6:5578927-5578928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369203642	chr6:5578948-5578949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540272662	chr6:5578949-5578950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373283765	chr6:5579036-5579037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72516669	chr6:5579042-5579043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369816690	chr6:5579055-5579056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56090798	chr6:5579056-5579057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143803119	chr6:5579059-5579060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11243019	chr6:5579060-5579061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28477400	chr6:5579063-5579064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13196834	chr6:5579064-5579065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10900972	chr6:5579067-5579068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372177230	chr6:5579068-5579069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6927153	chr6:5579071-5579072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189426645	chr6:5579089-5579090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115409691	chr6:5579094-5579095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182249764	chr6:5579102-5579103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533008026	chr6:5579133-5579134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545170751	chr6:5579155-5579156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112241869	chr6:5579184-5579185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536010090	chr6:5579196-5579197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185189865	chr6:5579213-5579214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72817784	chr6:5579215-5579216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190055319	chr6:5579240-5579241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527576148	chr6:5579263-5579264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34283433	chr6:5579278-5579279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9328317	chr6:5579290-5579291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77604585	chr6:5579307-5579308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181126190	chr6:5579311-5579312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375193697	chr6:5579350-5579351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5565200-5583200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:5574200-5583400	Weak transcription	NHDF-Ad	bronchial
3	chr6:5576200-5581400	Weak transcription	Primary B cells from cord blood	blood
4	chr6:5577400-5639800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:5578200-5584200	Weak transcription	Fetal Lung	lung
6	chr6:5580600-5582000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:5580800-5581000	Enhancers	Gastric	stomach
8	chr6:5580800-5581000	Enhancers	Lung	lung
9	chr6:5580800-5581000	Enhancers	Spleen	Spleen
10	chr6:5580800-5581600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:5580800-5581600	Enhancers	Primary T cells from cord blood	blood
12	chr6:5580800-5581800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:5580800-5581800	Enhancers	Fetal Muscle Leg	muscle
14	chr6:5580800-5582000	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:5580800-5582000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:5580800-5582200	Enhancers	Fetal Thymus	thymus
17	chr6:5580800-5582800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:5581000-5581200	Enhancers	GM12878-XiMat	blood
19	chr6:5581000-5582000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr6:5581000-5582000	Enhancers	Dnd41	blood
21	chr6:5581000-5582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:5581000-5614200	Weak transcription	Lung	lung
23	chr6:5581000-5640400	Weak transcription	Gastric	stomach
24	chr6:5581200-5581600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:5581200-5581600	Enhancers	Brain Hippocampus Middle	brain
26	chr6:5581200-5581600	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:5581200-5581600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:5581200-5581600	Enhancers	HSMMtube	muscle
29	chr6:5581200-5581800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:5581200-5582000	Enhancers	Thymus	Thymus
31	chr6:5581200-5582000	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:5581400-5581600	Enhancers	HSMM	muscle
33	chr6:5581400-5581800	Enhancers	Brain Angular Gyrus	brain
34	chr6:5581400-5581800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:5581400-5581800	Active TSS	Psoas Muscle	Psoas
36	chr6:5581400-5582000	Enhancers	Primary B cells from cord blood	blood
37	chr6:5581400-5582000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:5581600-5581800	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr6:5581600-5581800	Enhancers	Fetal Stomach	stomach
40	chr6:5581600-5582000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr6:5581600-5582000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:5581600-5582000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:5581600-5582000	Flanking Active TSS	HSMM	muscle
44	chr6:5581600-5582000	Flanking Active TSS	HSMMtube	muscle
45	chr6:5581600-5584000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:5581600-5584400	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:5581800-5582000	Active TSS	Fetal Muscle Trunk	muscle
48	chr6:5581800-5582000	Flanking Active TSS	Psoas Muscle	Psoas
49	chr6:5582000-5583000	Enhancers	Primary T cells from cord blood	blood
50	chr6:5582000-5584000	Weak transcription	Muscle Satellite Cultured Cells	--

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